401:(or placement of the nasopharyngeal airway or tube), the infant is fitted with a blunt-tipped length of surgical tubing (or an endotracheal tube fitted to the child), which is placed under direct visualization with a laryngoscope, being inserted into the nose and down the pharynx (or throat), ending just above the vocal cords. Surgical threads fitted through holes in the outside end of the tube are attached to the cheek with a special skin-like adhesive material called 'stomahesive', which is also wrapped around the outside end of the tube (but not over the opening at the end) to keep the tube in place. This tube or cannula, which itself acts as an airway, primarily acts as a sort of "splint" which maintains patency of the airway by keeping the tongue from falling back on the posterior pharyngeal wall and occluding the airway, therefore preventing airway obstruction, hypoxia and asphyxia. Nasopharyngeal airways are not available at every center; however, when available, nasopharyngeal cannulation should be favored over the other treatments mentioned in this article, as it is far less invasive; it allows the infant to feed without the further placement of a nasogastric tube. This treatment may be utilized for multiple months, until the jaw has grown enough so that the tongue assumes a more normal position in the mouth and airway (at birth, the jaws of some infants are so underdeveloped that only the tip of the tongue can be seen when viewed in the throat). Some institutions discharge the infant home with a nasopharyngeal tube in place.
388:
should be placed in the sidelying or prone position, which helps bring the tongue base forward in many children. One study of 60 infants with PRS found that 63% of infants responded to prone positioning. Fifty-three percent of the infants in this study required some form of feeding assistance, either nasogastric tube or gastrostomy tube feedings (feeding directly into the stomach). In a separate study of 115 children with the clinical diagnosis of PRS managed at two different hospitals in Boston, respiratory distress was managed successfully in 56% without an operation (either by prone positioning, short-term intubation, or placement of a nasopharyngeal airway). In this study, gastrostomy tube feeding were placed in 42% of these infants due to feeding difficulties.
394:(GERD) seems to be more prevalent in children with PRS. Because reflux of acidic contents in the posterior pharynx and upper airway can intensify the symptoms of PRS, specifically by worsening airway obstruction, it is important to maximize treatment for GER in children with PRS and reflux symptoms. Treatment may include upright positioning on a wedge (a tucker sling may be needed if the baby is in the prone position), small and frequent feedings (to minimize vomiting), and/or pharmacotherapy (such as proton pump inhibitors).
244:
236:
37:
298:. This condition manifests as a cleft palate. Later in gestation (at around 12 to 14 weeks), extension of the neck of the fetus releases the pressure on the mandible, allowing it to grow normally from this point forward. At birth, however, the mandible is still much smaller (hypoplastic) than it would have been with normal development. After the child is born, the mandible continues to grow until the child reaches maturity.
409:
by the parents at home. The adjustments are made by turning a small screw that protrudes through the skin, usually at a rate of 1 mm per day. This gradual distraction leads to formation of new bone between the two ends. After the process is complete, the osteotomy is allowed to heal over a period of six to eight weeks. A small second surgery is then performed to remove the device.
405:
preoperative assessment, during which doctors use three-dimensional imaging to identify the parts of the patient's facial skeleton that need realignment and determine the required magnitude and direction of distraction. They then select the most suitable distraction device or, if necessary, have custom devices made. Whenever possible, intraoral devices are used.
471:, as well as to breathing difficulty related to the posterior position of the tongue. Given the breathing difficulties that some babies with PRS face, they may require more calories to grow (as working of breathing is somewhat like exercising for an infant). Infants, when moderately to severely affected, may occasionally need nasopharyngeal
387:
The goals of treatment in infants with PRS focus upon breathing and feeding, and optimizing growth and nutrition despite the predisposition for breathing difficulties. If there is evidence of airway obstruction (snorty breathing, apnea, difficulty taking a breath, or drops in oxygen), then the infant
458:
The most important medical problems are difficulties in breathing and feeding. Affected infants very often need assistance with feeding, for example needing to stay in a lateral (on the side) or prone (on the tummy) position which helps bring the tongue forward and opens up the airway. Babies with a
404:
Distraction osteogenesis (DO), also known as "Mandibular
Distraction," is employed to address the abnormal smallness of one or both jaws in patients with PRS. By enlarging the lower jaw, this procedure advances the tongue, preventing it from obstructing the upper airway. The DO process starts with a
454:
related to upper airway obstruction as well as lack of nutrition due to early feeding difficulties or the development of an oral aversion. However, the general prognosis is quite good once the initial breathing and feeding difficulties are overcome in infancy. Most PRS babies grow to lead a healthy
408:
DO surgery starts with an osteotomy (surgical division or sectioning of bone) followed by the distraction device being placed under the skin and across the osteotomy. A few days later, the two ends of the bone are very gradually pulled apart through continual adjustments that are made to the device
508:
Hearing loss has a higher incidence in those with cleft palate versus non-cleft palate. One study showed hearing loss in PRS at an average of 83%, versus an average of 60% of individuals with cleft without PRS. Another study with children showed that hearing loss was found more frequently with PRS
432:
A cleft palate (PRS or not) makes it difficult for individuals to articulate speech sounds, which may be due to the physical nature of cleft palate or the hearing loss that is associated with the condition. This is typically why a speech language pathologist and/or audiologist is involved with the
428:
generally do not require surgery, as they improve to some extent unaided, though the mandibular arch remains significantly smaller than average. In some cases jaw distraction is needed to aid in breathing and feeding. Lip-tongue attachment is performed in some centres, though its efficacy has been
1198:
HandĆŸiÄ-Äuk, J., Äuk, V., RiĆĄavi, R., KatiÄ, V., KatuĆĄiÄ, D., Bagatin, M., ... Gortan, D. (2007, June 29). Pierre Robin syndrome: characteristics of hearing loss, effect of age on hearing level and possibilities in therapy planning: The
Journal of Laryngology & Otology. Retrieved from
492:
is performed to bring the tongue forward, effectively opening up the airway. Mandibular distraction can be effective by moving the jaw forward to overcome the upper airway obstruction caused by the posterior positioning of the tongue. Given that some children with PRS will have
420:(ENT surgeon). In many centres there is now a cleft lip and palate team comprising these specialties, as well as a coordinator, a speech and language therapist, an orthodontist, sometimes a psychologist or other mental health specialist, an audiologist, and nursing staff. The
1200:
497:, it is important that children with PRS be evaluated by an optometrist or ophthalmologist. Because the retinal detachment that sometimes accompanies Stickler syndrome is a leading cause of blindness in children, it is very important to recognize this diagnosis.
433:
patient. Hearing should be checked by an audiologist regularly and can be treated with hearing amplification such as hearing aids. Because middle ear effusion is found in many patients with PRS, tympanostomy (ventilation) tubes are often a treatment option.
255:, posterior displacement or retraction of the tongue, and upper airway obstruction. Cleft palate (incomplete closure of the roof of the mouth) is present in the majority of patients. Hearing loss and speech difficulty are often associated with PRS.
1201:
https://www.cambridge.org/core/journals/journal-of-laryngology-and-otology/article/pierre-robin-syndrome-characteristics-of-hearing-loss-effect-of-age-on-hearing-level-and-possibilities-in-therapy-planning/6DD871B7BD583AD124C1EE0A3538FCCD
1392:
289:
mandible is too small to accommodate the tongue, which continues to grow unimpeded. With nowhere else to go, the base of the tongue is downwardly displaced, which causes the tip of the tongue to be interposed between the left and right
449:
Children affected with PRS usually reach full development and size. However, it has been found internationally that children with PRS are often slightly below average size, raising concerns of incomplete development due to chronic
479:
to bypass the airway obstruction at the base of the tongue. in some places, children are discharged home with a nasopharyngeal tube for a period of time, and parents are taught how to maintain the tube. Sometimes endotracheal
268:
The physical craniofacial deformities of PRS may be the result of a mechanical problem in which intrauterine growth of certain facial structures is restricted, or mandibular positioning is altered. One theory for the
436:
One study with children showed that patients with PRS displayed a moderate and severe hearing loss most frequently. Planigraphs of temporal bones in these patients displayed an underdeveloped pneumatization of the
1385:
1260:
1245:
1378:
1122:
Pierre Robin. La glossoptose. Son diagnostic, ses consequences, son traitement. Bulletin de lâAcadĂ©mie nationale de mĂ©decine, Paris, 1923, 89: 37. Journal de mĂ©decine de Paris, 1923, 43: 235-237
337:
gene) have all been implicated in PRS. Some evidence suggests that genetic dysregulation of the SOX9 gene (which encodes the SOX-9 transcription factor) and/or the KCNJ2 gene (which encodes the
509:(73.3%) compared to those with cleft and no PRS (58.1%). Hearing loss with PRS typically is a bilateral, conductive loss (affecting the outer/middle portion of the ear).
2086:
441:
bone in all PRS patients and in most patients with cleft palate (without PRS). There were no abnormalities of the inner or middle ear anatomy in patients with PRS.
2546:
754:
Jakobsen, LP; Knudsen, MA; Lespinasse, J; GarcĂa Ayuso, C; Ramos, C; Fryns, JP; Bugge, M; Tommerup, N (2006). "The genetic basis of the Pierre Robin
Sequence".
285:. This compression of the chin interferes with development of the body of the mandible, resulting in micrognathia. The concave space formed by the body of the
489:
888:
2561:
1370:
838:
Jakobsen, LP; Ullmann, R; Christensen, SB; Jensen, KE; MĂžlsted, K; Henriksen, KF; Hansen, C; Knudsen, MA; Larsen, LA; Tommerup, N; TĂŒmer, Z (2007).
1051:
Junaid, Mohammed (February 2022). "Epidemiology of Rare
Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study".
2079:
1972:
659:
1205:
Handzic, J., Bagatin, M., & Subotic, R. (1995, February). Hearing Levels in Pierre Robin
Syndrome. Retrieved March 11, 2020, from
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2335:
2072:
551:
2551:
1465:
2142:
1132:
889:"Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature"
347:
PRS may occur in isolation, but it is often part of an underlying disorder or syndrome. Disorders associated with PRS include
2137:
1206:
2541:
1913:
375:
PRS is generally diagnosed clinically shortly after birth. The infant usually has respiratory difficulty, especially when
1275:
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463:). Infants who are unable to take in enough calories by mouth to ensure growth may need supplementation with a
413:
131:
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532:, had PRS, although others claim that his sunken chin was the result of a forceps accident during childbirth.
294:. This in turn may result in failure of the left and right palatal shelves to fuse in the midline to form the
211:(downwardly displaced or retracted tongue), which in turn causes breathing problems due to obstruction of the
2285:
212:
74:
2345:
2242:
2132:
1702:
1405:
412:
The cleft palate is generally repaired between the ages of 6œ months and 2 years by a plastic surgeon, an
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2300:
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940:"Overlap of Patau and Pierre Robin syndromes along with abnormal metabolism: an interesting case study"
379:. The palatal cleft is often U-shaped and wider than that observed in other people with cleft palate.
2396:
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227:âa series of specific developmental malformations which can be attributed to a single cause.
30:
Pierre Robin syndrome, Pierre Robin malformation, Pierre Robin anomaly, Pierre Robin anomalad
608:
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2432:
2420:
1967:
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117:
467:. This is related to the difficulty in forming a vacuum in the oral cavity related to the
8:
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1264:
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https://www.researchgate.net/publication/15470673_Hearing_Levels_in_Pierre_Robin_Syndrome
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Pierre Robin
Syndrome - Birth Defect Fact Sheet. (2020, March 11). Retrieved from
2497:
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may be indicated to overcome upper respiratory obstruction. In some centers, a
364:
344:) impairs the development of certain facial structures, which can lead to PRS.
277:, some mechanical factor causes the neck to be abnormally flexed such that the
1340:
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1918:
1862:
1829:
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887:
van den Elzen AP, Semmekrot BA, Bongers EM, Huygen PL, Marres HA (2001).
295:
1237:
840:"Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2"
2305:
1898:
1834:
1747:
1741:
1717:
1685:
1652:
1621:
1571:
1543:
1346:
1187:
1163:
481:
311:
286:
179:
609:"The Pierre Robin syndrome reassessed in the light of recent research"
505:
The prevalence of PRS is estimated to be 1 in 5,400 to 14,000 people.
2005:
1950:
1757:
1642:
1635:
1616:
1548:
1512:
1332:
767:
753:
525:
274:
89:
1366:
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=718
2294:
2157:
1447:
1443:
1425:
886:
528:, one of the most famous and influential artists in the history of
459:
cleft palate will need a special cleft feeding device (such as the
318:
270:
252:
220:
204:
2015:
1673:
472:
438:
398:
1280:
837:
1249:
338:
162:
334:
326:
170:
1558:
1219:
http://craniofacialteamtexas.com/pierre-robin-sequence-prs/
938:
Jaiswal, SK; Sukla, KK; Gupta, V; Rai, AK (December 2014).
330:
322:
321:. Specifically, mutations at chromosome 2 (possibly at the
310:. In the case of PRS which is due to a genetic disorder, a
278:
314:
basis has been postulated, but it usually occurs due to a
1991:
1521:
1434:
159:
799:"Role of SOX9 in the Etiology of Pierre-Robin Syndrome"
704:
1023:
Pierre Robin
Syndrome - Birth Defect Fact Sheet, 2020
796:
517:
The condition is named for the French dental surgeon
2094:
1227:
1217:
Pierre Robin
Sequence (PRS). (2020). Retrieved from
937:
325:
gene), chromosome 4, chromosome 11 (possibly at the
176:
167:
156:
173:
1213:https://www.birthdefects.org/pierre-robin-syndrome
700:
698:
2533:
273:of PRS is that, early in the first trimester of
705:Gangopadhyay, N; Mendonca, DA; Woo, AS (2012).
695:
2547:Congenital disorders of musculoskeletal system
1037:
1035:
1033:
1031:
1029:
219:is commonly also present. PRS is not merely a
104:mutations (on chromosomes 2, 4, 11, or 17) or
2080:
1386:
682:"merriam-webster.com â Pierre Robin syndrome"
606:
602:
600:
598:
195:observed in humans which is characterized by
1092:
1090:
931:
100:intrauterine compression of fetal mandible,
1026:
880:
831:
747:
306:Alternatively, PRS may also be caused by a
251:PRS is characterized by an unusually small
2087:
2073:
1393:
1379:
987:Smith and Senders, 2006, Int J Pediatr Oto
660:United States National Library of Medicine
595:
35:
2562:Syndromes with craniofacial abnormalities
1087:
863:
814:
803:Iranian Journal of Basic Medical Sciences
730:
624:
329:gene), or chromosome 17 (possibly at the
790:
646:
644:
242:
234:
2534:
1161:
1050:
797:Selvi, R; Mukunda Priyanka, A (2013).
239:Micrognathism in Pierre Robin sequence
2068:
1374:
756:The Cleft Palate-Craniofacial Journal
641:
247:Cleft palate in Pierre Robin sequence
230:
1914:Greig cephalopolysyndactyly syndrome
996:Evans et al., 2006, In J Pediatr Oto
263:
13:
1404:malformations and deformations of
613:British Journal of Plastic Surgery
342:inward-rectifier potassium channel
14:
2578:
2336:BannayanâRileyâRuvalcaba syndrome
1223:
552:WeissenbacherâZweymĂŒller syndrome
44:Infant with Pierre Robin sequence
2567:Diseases named after discoverers
652:"Isolated Pierre Robin sequence"
607:Edwards, JR; Newall, DR (1985).
301:
152:
1587:Congenital patellar dislocation
1466:WallisâZieffâGoldblatt syndrome
1164:"Noel Rosa's Nationalist Logic"
1155:
1125:
1116:
1099:
1044:
1017:
1008:
999:
990:
981:
500:
281:becomes compressed against the
2552:Syndromes affecting the tongue
2143:BonnetâDechaumeâBlanc syndrome
674:
564:
199:. The three main features are
132:oral and maxillofacial surgery
1:
2138:SakatiâNyhanâTisdale syndrome
557:
382:
2376:Tatton-BrownâRahman syndrome
2346:Benign symmetric lipomatosis
1005:Dudkiewicz, March 2000, CPCJ
626:10.1016/0007-1226(85)90238-3
444:
370:
7:
2542:Syndromes affecting the jaw
2466:Branchio-oto-renal syndrome
2341:BeckwithâWiedemann syndrome
1873:Oto-palato-digital syndrome
1868:HallermannâStreiff syndrome
1592:Congenital knee dislocation
1410:musculoskeletal abnormality
1065:10.1016/j.jpeds.2021.09.060
1014:KD Anderson, May 2007, CPCJ
844:Journal of Medical Genetics
711:Seminars in Plastic Surgery
535:
141:1 in 8,500 to 14,000 people
10:
2583:
2438:ZimmermannâLaband syndrome
2390:LaurenceâMoonâBardetâBiedl
2351:KlippelâTrĂ©naunay syndrome
2301:Caudal regression syndrome
2276:KlippelâTrĂ©naunay syndrome
2238:SmithâLemliâOpitz syndrome
2208:Cornelia de Lange syndrome
1904:Craniodiaphyseal dysplasia
512:
2410:
2389:
2326:
2286:RubinsteinâTaybi syndrome
2256:
2183:
2103:
2038:
2014:
1990:
1981:
1936:
1886:
1878:Treacher Collins syndrome
1848:
1820:
1811:
1802:
1768:
1729:reduction deficits / limb
1728:
1672:
1665:
1600:
1557:
1520:
1511:
1474:
1442:
1433:
1416:
1312:
1231:
959:10.1007/s12041-014-0452-2
576:Pierre Robin malformation
361:Treacher Collins syndrome
258:
137:
123:
111:
96:
84:
60:
48:
43:
34:
26:
21:
2356:Neurofibromatosis type I
2243:SnyderâRobinson syndrome
2193:1q21.1 deletion syndrome
2133:SaethreâChotzen syndrome
1703:CenaniâLenz syndactylism
1456:Cleidocranial dysostosis
414:oromaxillofacial surgeon
2266:Adducted thumb syndrome
2228:SilverâRussell syndrome
1850:Craniofacial dysostosis
856:10.1136/jmg.2006.046177
707:"Pierre Robin Sequence"
656:Genetics Home Reference
542:AndersenâTawil syndrome
455:and normal adult life.
392:Gastroesophageal reflux
2402:LaurenceâMoon syndrome
2198:AarskogâScott syndrome
2153:BallerâGerold syndrome
2096:Congenital abnormality
1406:musculoskeletal system
1162:McCann, Bryan (2001).
723:10.1055/s-0032-1320065
658:. Bethesda, Maryland:
357:fetal alcohol syndrome
283:sternoclavicular joint
248:
240:
2397:BardetâBiedl syndrome
2281:Nailâpatella syndrome
2173:Pierre Robin sequence
2113:Acrocephalosyndactyly
1958:KlippelâFeil syndrome
1352:Pierre Robin sequence
1168:Luso-Brazilian Review
1053:Journal of Pediatrics
905:10.1007/s004310000646
584:Pierre Robin anomalad
572:Pierre Robin syndrome
429:recently questioned.
418:otorhinolaryngologist
246:
238:
223:, but rather it is a
148:Pierre Robin sequence
73:, obstruction of the
22:Pierre Robin sequence
2328:Overgrowth syndromes
1968:Spina bifida occulta
1484:Madelung's deformity
1461:Sprengel's deformity
1133:"Noel Rosa 100 anos"
580:Pierre Robin anomaly
475:, or placement of a
197:facial abnormalities
128:Craniofacial surgery
118:Physical examination
2316:VACTERL association
1786:RAPADILINO syndrome
1096:HandĆŸiÄ et al, 1995
947:Journal of Genetics
547:First arch syndrome
524:It is thought that
490:tongue lip adhesion
477:nasopharyngeal tube
279:tip of the mandible
215:. A wide, U-shaped
2271:HoltâOram syndrome
2163:Goldenhar syndrome
2123:Carpenter syndrome
1648:Rocker bottom foot
1313:External resources
570:Formerly known as
397:In nasopharyngeal
249:
241:
231:Signs and symptoms
203:(abnormally small
92:, present at birth
2529:
2528:
2426:Feingold syndrome
2213:Dubowitz syndrome
2203:Cockayne syndrome
2128:Pfeiffer syndrome
2062:
2061:
2058:
2057:
2054:
2053:
1983:Thoracic skeleton
1963:Spondylolisthesis
1932:
1931:
1798:
1797:
1794:
1793:
1661:
1660:
1507:
1506:
1361:
1360:
1137:O PĂĄgina Cultural
1041:HandĆŸiÄ-Äuk, 2007
495:Stickler syndrome
353:DiGeorge syndrome
349:Stickler syndrome
193:congenital defect
145:
144:
113:Diagnostic method
106:Stickler syndrome
16:Medical condition
2574:
2510:Donohue syndrome
2486:Timothy syndrome
2366:Proteus syndrome
2361:Perlman syndrome
2223:Robinow syndrome
2168:Moebius syndrome
2089:
2082:
2075:
2066:
2065:
2030:Pectus carinatum
2025:Pectus excavatum
1988:
1987:
1946:Spinal curvature
1938:Vertebral column
1858:Crouzon syndrome
1822:Craniosynostosis
1818:
1817:
1809:
1808:
1674:fingers and toes
1670:
1669:
1582:Discoid meniscus
1539:Upington disease
1518:
1517:
1440:
1439:
1431:
1430:
1395:
1388:
1381:
1372:
1371:
1229:
1228:
1192:
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1159:
1153:
1152:
1150:
1148:
1143:on April 2, 2015
1139:. Archived from
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1103:
1097:
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1084:
1048:
1042:
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1024:
1021:
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1012:
1006:
1003:
997:
994:
988:
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979:
978:
944:
935:
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928:
923:. Archived from
884:
878:
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818:
794:
788:
787:
768:10.1597/05-008.1
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745:
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702:
693:
692:
690:
688:
678:
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671:
669:
667:
648:
639:
638:
628:
604:
587:
568:
465:nasogastric tube
308:genetic disorder
264:Mechanical basis
207:), which causes
186:
185:
182:
181:
178:
175:
172:
169:
165:
164:
161:
158:
55:Medical genetics
39:
19:
18:
2582:
2581:
2577:
2576:
2575:
2573:
2572:
2571:
2532:
2531:
2530:
2525:
2498:Marfan syndrome
2482:Keutel syndrome
2470:CHARGE syndrome
2454:Fraser syndrome
2412:
2411:Combined/other,
2406:
2385:
2381:Weaver syndrome
2322:
2252:
2248:Turner syndrome
2233:Seckel syndrome
2218:Noonan syndrome
2179:
2099:
2093:
2063:
2050:
2046:Poland syndrome
2034:
2010:
1977:
1928:
1882:
1844:
1790:
1781:Larsen syndrome
1769:multiple joints
1764:
1724:
1657:
1596:
1577:Genu recurvatum
1553:
1530:Hip dislocation
1503:
1470:
1420:
1412:
1399:
1362:
1357:
1356:
1308:
1307:
1240:
1226:
1196:
1195:
1160:
1156:
1146:
1144:
1131:
1130:
1126:
1121:
1117:
1104:
1100:
1095:
1088:
1049:
1045:
1040:
1027:
1022:
1018:
1013:
1009:
1004:
1000:
995:
991:
986:
982:
942:
936:
932:
893:Eur. J. Pediatr
885:
881:
836:
832:
795:
791:
752:
748:
703:
696:
686:
684:
680:
679:
675:
665:
663:
650:
649:
642:
605:
596:
591:
590:
569:
565:
560:
538:
530:Brazilian music
515:
503:
461:Haberman Feeder
447:
385:
373:
304:
292:palatal shelves
266:
261:
233:
166:
155:
151:
17:
12:
11:
5:
2580:
2570:
2569:
2564:
2559:
2557:Medical triads
2554:
2549:
2544:
2527:
2526:
2524:
2523:
2522:
2521:
2519:Fryns syndrome
2513:
2501:
2489:
2473:
2457:
2441:
2429:
2416:
2414:
2408:
2407:
2405:
2404:
2399:
2393:
2391:
2387:
2386:
2384:
2383:
2378:
2373:
2371:Sotos syndrome
2368:
2363:
2358:
2353:
2348:
2343:
2338:
2332:
2330:
2324:
2323:
2321:
2320:
2319:
2318:
2313:
2308:
2303:
2288:
2283:
2278:
2273:
2268:
2262:
2260:
2254:
2253:
2251:
2250:
2245:
2240:
2235:
2230:
2225:
2220:
2215:
2210:
2205:
2200:
2195:
2189:
2187:
2181:
2180:
2178:
2177:
2176:
2175:
2170:
2165:
2160:
2155:
2147:
2146:
2145:
2140:
2135:
2130:
2125:
2120:
2118:Apert syndrome
2109:
2107:
2101:
2100:
2092:
2091:
2084:
2077:
2069:
2060:
2059:
2056:
2055:
2052:
2051:
2049:
2048:
2042:
2040:
2036:
2035:
2033:
2032:
2027:
2021:
2019:
2012:
2011:
2009:
2008:
2003:
1997:
1995:
1985:
1979:
1978:
1976:
1975:
1970:
1965:
1960:
1955:
1954:
1953:
1942:
1940:
1934:
1933:
1930:
1929:
1927:
1926:
1921:
1916:
1911:
1909:Dolichocephaly
1906:
1901:
1896:
1890:
1888:
1884:
1883:
1881:
1880:
1875:
1870:
1865:
1860:
1854:
1852:
1846:
1845:
1843:
1842:
1840:Trigonocephaly
1837:
1832:
1826:
1824:
1815:
1813:Skull and face
1806:
1800:
1799:
1796:
1795:
1792:
1791:
1789:
1788:
1783:
1778:
1776:Arthrogryposis
1772:
1770:
1766:
1765:
1763:
1762:
1761:
1760:
1755:
1750:
1738:
1732:
1730:
1726:
1725:
1723:
1722:
1721:
1720:
1710:
1705:
1700:
1698:Arachnodactyly
1695:
1694:
1693:
1678:
1676:
1667:
1663:
1662:
1659:
1658:
1656:
1655:
1650:
1645:
1640:
1639:
1638:
1626:
1625:
1624:
1619:
1606:
1604:
1602:foot deformity
1598:
1597:
1595:
1594:
1589:
1584:
1579:
1574:
1569:
1563:
1561:
1555:
1554:
1552:
1551:
1546:
1541:
1536:
1526:
1524:
1515:
1509:
1508:
1505:
1504:
1502:
1501:
1496:
1491:
1486:
1480:
1478:
1476:hand deformity
1472:
1471:
1469:
1468:
1463:
1458:
1452:
1450:
1437:
1428:
1414:
1413:
1398:
1397:
1390:
1383:
1375:
1369:
1368:
1359:
1358:
1355:
1354:
1343:
1329:
1317:
1316:
1314:
1310:
1309:
1306:
1305:
1294:
1283:
1272:
1257:
1241:
1236:
1235:
1233:
1232:Classification
1225:
1224:External links
1222:
1194:
1193:
1154:
1124:
1115:
1098:
1086:
1059:: 162â172.e9.
1043:
1025:
1016:
1007:
998:
989:
980:
930:
927:on 2001-03-09.
879:
830:
789:
746:
694:
673:
640:
593:
592:
589:
588:
562:
561:
559:
556:
555:
554:
549:
544:
537:
534:
514:
511:
502:
499:
446:
443:
384:
381:
372:
369:
365:Patau syndrome
303:
300:
265:
262:
260:
257:
232:
229:
187:; abbreviated
143:
142:
139:
135:
134:
125:
121:
120:
115:
109:
108:
98:
94:
93:
86:
82:
81:
64:
58:
57:
52:
46:
45:
41:
40:
32:
31:
28:
24:
23:
15:
9:
6:
4:
3:
2:
2579:
2568:
2565:
2563:
2560:
2558:
2555:
2553:
2550:
2548:
2545:
2543:
2540:
2539:
2537:
2520:
2517:
2516:
2514:
2511:
2507:
2506:
2502:
2499:
2495:
2494:
2490:
2487:
2483:
2479:
2478:
2474:
2471:
2467:
2463:
2462:
2458:
2455:
2451:
2450:
2446:
2442:
2439:
2435:
2434:
2430:
2427:
2423:
2422:
2418:
2417:
2415:
2409:
2403:
2400:
2398:
2395:
2394:
2392:
2388:
2382:
2379:
2377:
2374:
2372:
2369:
2367:
2364:
2362:
2359:
2357:
2354:
2352:
2349:
2347:
2344:
2342:
2339:
2337:
2334:
2333:
2331:
2329:
2325:
2317:
2314:
2312:
2309:
2307:
2304:
2302:
2299:
2298:
2296:
2292:
2289:
2287:
2284:
2282:
2279:
2277:
2274:
2272:
2269:
2267:
2264:
2263:
2261:
2259:
2255:
2249:
2246:
2244:
2241:
2239:
2236:
2234:
2231:
2229:
2226:
2224:
2221:
2219:
2216:
2214:
2211:
2209:
2206:
2204:
2201:
2199:
2196:
2194:
2191:
2190:
2188:
2186:
2185:Short stature
2182:
2174:
2171:
2169:
2166:
2164:
2161:
2159:
2156:
2154:
2151:
2150:
2148:
2144:
2141:
2139:
2136:
2134:
2131:
2129:
2126:
2124:
2121:
2119:
2116:
2115:
2114:
2111:
2110:
2108:
2106:
2102:
2097:
2090:
2085:
2083:
2078:
2076:
2071:
2070:
2067:
2047:
2044:
2043:
2041:
2037:
2031:
2028:
2026:
2023:
2022:
2020:
2017:
2013:
2007:
2004:
2002:
1999:
1998:
1996:
1993:
1989:
1986:
1984:
1980:
1974:
1973:Sacralization
1971:
1969:
1966:
1964:
1961:
1959:
1956:
1952:
1949:
1948:
1947:
1944:
1943:
1941:
1939:
1935:
1925:
1922:
1920:
1919:Plagiocephaly
1917:
1915:
1912:
1910:
1907:
1905:
1902:
1900:
1897:
1895:
1892:
1891:
1889:
1885:
1879:
1876:
1874:
1871:
1869:
1866:
1864:
1863:Hypertelorism
1861:
1859:
1856:
1855:
1853:
1851:
1847:
1841:
1838:
1836:
1833:
1831:
1830:Scaphocephaly
1828:
1827:
1825:
1823:
1819:
1816:
1814:
1810:
1807:
1805:
1801:
1787:
1784:
1782:
1779:
1777:
1774:
1773:
1771:
1767:
1759:
1756:
1754:
1751:
1749:
1746:
1745:
1744:
1743:
1739:
1737:
1734:
1733:
1731:
1727:
1719:
1716:
1715:
1714:
1713:Brachydactyly
1711:
1709:
1706:
1704:
1701:
1699:
1696:
1692:
1689:
1688:
1687:
1683:
1680:
1679:
1677:
1675:
1671:
1668:
1666:Either / both
1664:
1654:
1651:
1649:
1646:
1644:
1641:
1637:
1634:
1633:
1632:
1631:
1627:
1623:
1620:
1618:
1615:
1614:
1613:
1612:
1608:
1607:
1605:
1603:
1599:
1593:
1590:
1588:
1585:
1583:
1580:
1578:
1575:
1573:
1570:
1568:
1565:
1564:
1562:
1560:
1556:
1550:
1547:
1545:
1542:
1540:
1537:
1535:
1534:Hip dysplasia
1531:
1528:
1527:
1525:
1523:
1519:
1516:
1514:
1510:
1500:
1497:
1495:
1492:
1490:
1487:
1485:
1482:
1481:
1479:
1477:
1473:
1467:
1464:
1462:
1459:
1457:
1454:
1453:
1451:
1449:
1445:
1441:
1438:
1436:
1432:
1429:
1427:
1423:
1419:
1415:
1411:
1407:
1403:
1396:
1391:
1389:
1384:
1382:
1377:
1376:
1373:
1367:
1364:
1363:
1353:
1349:
1348:
1344:
1342:
1339:
1335:
1334:
1330:
1328:
1324:
1323:
1319:
1318:
1315:
1311:
1304:
1300:
1299:
1295:
1293:
1289:
1288:
1284:
1282:
1278:
1277:
1273:
1271:
1267:
1266:
1262:
1258:
1256:
1252:
1251:
1247:
1243:
1242:
1239:
1234:
1230:
1221:
1220:
1215:
1214:
1209:
1208:
1203:
1202:
1189:
1185:
1181:
1177:
1173:
1169:
1165:
1158:
1142:
1138:
1134:
1128:
1119:
1113:
1112:Who Named It?
1109:
1108:
1102:
1093:
1091:
1082:
1078:
1074:
1070:
1066:
1062:
1058:
1054:
1047:
1038:
1036:
1034:
1032:
1030:
1020:
1011:
1002:
993:
984:
976:
972:
968:
964:
960:
956:
952:
948:
941:
934:
926:
922:
918:
914:
910:
906:
902:
898:
894:
890:
883:
875:
871:
866:
861:
857:
853:
849:
845:
841:
834:
826:
822:
817:
812:
808:
804:
800:
793:
785:
781:
777:
773:
769:
765:
761:
757:
750:
742:
738:
733:
728:
724:
720:
716:
712:
708:
701:
699:
683:
677:
661:
657:
653:
647:
645:
636:
632:
627:
622:
619:(3): 339â42.
618:
614:
610:
603:
601:
599:
594:
585:
581:
577:
573:
567:
563:
553:
550:
548:
545:
543:
540:
539:
533:
531:
527:
522:
520:
510:
506:
498:
496:
491:
487:
483:
478:
474:
470:
466:
462:
456:
453:
442:
440:
434:
430:
427:
426:micrognathism
423:
419:
415:
410:
406:
402:
400:
395:
393:
389:
380:
378:
368:
366:
362:
358:
354:
350:
345:
343:
340:
336:
332:
328:
324:
320:
317:
313:
309:
302:Genetic basis
299:
297:
293:
288:
284:
280:
276:
272:
256:
254:
245:
237:
228:
226:
222:
218:
214:
210:
206:
202:
198:
194:
190:
184:
149:
140:
136:
133:
129:
126:
122:
119:
116:
114:
110:
107:
103:
99:
95:
91:
87:
83:
80:
76:
72:
68:
65:
63:
59:
56:
53:
51:
47:
42:
38:
33:
29:
25:
20:
2503:
2491:
2475:
2459:
2443:
2431:
2419:
2291:Gastrulation
2172:
2105:Craniofacial
1894:Macrocephaly
1740:
1736:Acheiropodia
1708:Ectrodactyly
1628:
1609:
1494:Oligodactyly
1489:Clinodactyly
1418:Appendicular
1345:
1331:
1320:
1296:
1285:
1274:
1259:
1244:
1216:
1210:
1204:
1197:
1171:
1167:
1157:
1145:. Retrieved
1141:the original
1136:
1127:
1118:
1105:
1101:
1056:
1052:
1046:
1019:
1010:
1001:
992:
983:
953:(3): 865â8.
950:
946:
933:
925:the original
899:(1): 47â53.
896:
892:
882:
850:(6): 381â6.
847:
843:
833:
809:(5): 700â4.
806:
802:
792:
762:(2): 155â9.
759:
755:
749:
717:(2): 76â82.
714:
710:
685:. Retrieved
676:
664:. Retrieved
655:
616:
612:
583:
579:
575:
571:
566:
523:
519:Pierre Robin
516:
507:
504:
501:Epidemiology
486:tracheostomy
469:cleft palate
457:
448:
435:
431:
422:glossoptosis
411:
407:
403:
396:
390:
386:
374:
346:
333:gene or the
315:
305:
267:
250:
217:cleft palate
213:upper airway
209:glossoptosis
201:micrognathia
188:
147:
146:
101:
79:cleft palate
77:, sometimes
75:upper airway
71:glossoptosis
67:Micrognathia
2413:known locus
2311:Sirenomelia
1924:Saddle nose
1691:Webbed toes
1682:Polydactyly
1567:Genu valgum
1499:Polydactyly
1322:MedlinePlus
1174:(1): 1â16.
473:cannulation
399:cannulation
296:hard palate
287:hypoplastic
85:Usual onset
27:Other names
2536:Categories
2306:Ectromelia
1899:Platybasia
1835:Oxycephaly
1748:Phocomelia
1742:Ectromelia
1718:Stub thumb
1686:Syndactyly
1653:Hammer toe
1622:Pigeon toe
1572:Genu varum
1544:Coxa valga
1402:Congenital
1347:Patient UK
1298:DiseasesDB
558:References
482:intubation
383:Management
312:hereditary
2515:Multiple
2098:syndromes
1951:Scoliosis
1758:Hemimelia
1643:Pes cavus
1636:Flat feet
1617:Club foot
1549:Coxa vara
1333:eMedicine
1180:0024-7413
1107:synd/1291
1081:238532372
526:Noel Rosa
445:Prognosis
371:Diagnosis
275:gestation
138:Frequency
124:Treatment
90:gestation
50:Specialty
2295:mesoderm
2158:Cyclopia
2001:Cervical
1448:shoulder
1444:clavicle
1426:dysmelia
1338:ped/2680
1147:March 1,
1073:34626670
975:12421132
967:25572249
921:35802241
913:11195018
874:17551083
825:23826492
784:25888887
776:16526920
741:23633934
536:See also
416:, or an
319:mutation
271:etiology
253:mandible
225:sequence
221:syndrome
205:mandible
62:Symptoms
2016:sternum
1341:ent/150
1292:D010855
1188:3513674
865:2740883
816:3700045
732:3424697
687:30 June
666:May 11,
635:4016420
513:History
452:hypoxia
439:mastoid
316:de-novo
191:) is a
102:de-novo
88:During
2149:Other
2039:other:
1753:Amelia
1630:valgus
1327:001607
1281:261800
1186:
1178:
1079:
1071:
973:
965:
919:
911:
872:
862:
823:
813:
782:
774:
739:
729:
662:. 2019
633:
377:supine
363:, and
339:Kir2.1
259:Causes
97:Causes
2258:Limbs
2006:Bifid
1887:other
1804:Axial
1611:varus
1303:29413
1270:756.0
1255:Q87.0
1184:JSTOR
1077:S2CID
971:S2CID
943:(PDF)
917:S2CID
780:S2CID
335:KCNJ2
327:PVRL1
1992:ribs
1559:knee
1435:Arms
1422:limb
1287:MeSH
1276:OMIM
1265:9-CM
1176:ISSN
1149:2015
1069:PMID
963:PMID
909:PMID
870:PMID
821:PMID
772:PMID
737:PMID
689:2019
668:2019
631:PMID
424:and
331:SOX9
323:GAD1
1522:hip
1513:Leg
1261:ICD
1246:ICD
1110:at
1061:doi
1057:241
955:doi
901:doi
897:160
860:PMC
852:doi
811:PMC
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