Multiple pterygium syndrome

Multiple pterygium syndrome Eur J Plast Surg (1998) 21:159  Springer-Verlag 1998 LETTER T O T HE EDITOR R.J. Gorlin Received: 10 July 1997 / Accepted: 25 July 1997 Sir: Growth is usually retarded below the 3rd centile, In scanning the European Journal of Plastic Surgery adult height rarely exceeding 135 cm. Popliteal ptery- 20:157±160, 1997, I noticed the case of ªNoonan syn- gia, noted in about 60%, may markedly inhibit ambula- dromeº reported by Þeliköz et al. To me, this is an exam- tion and often produce a bizarre stance. Pterygia in- ple of multiple pterygium syndrome. volving the cervical area are found in about 85%, re- Multiple pterygium syndrome has been buried in the sembling those seen in Turner and Noonan syndromes. early literature either under the non-specific diagnosis In about 15%, a pterygium extends from the chin to the of arthrogryposis or Noonan syndrome, which has autoso- sternum. mal dominant inheritance, in contrast to that of multiple Flexion deformity of the digits occurs in about 70%, pterygium syndrome which has autosomal recessive in- the thumbs often being flexed and apposed. Talipes cal- heritance. Multiple pterygium syndrome is characterized caneovalgus, either unilateral or bilateral, and rocker- by growth retardation, multiple pterygia involving the bottom feet, have been noted in about 65%. Kyphosco- neck, fingers, antecubital, popliteal and, rarely, intercrural liosis, often congenital, and other vertebral anomalies, areas. About 70 cases have been reported to date. Affect- such as failure of fusion of cervical vertebrae, have ed sibs and parental consanguinity have certainly estab- been found in about 60%. Pterygia may be found, as lished the inheritance pattern as autosomal recessive. noted above, in the axillae and antecubital areas in The palpebral fissures have mild downslanting angula- about 50% of the patients. Cleft palate has been noted tion. There is often mild ptosis of the lids, and epicanthic in about 35%, and hearing deficit has been described folds are frequent. in several patients. R.J. Gorlin ( ) University of Minnesota, School of Dentistry, Malcolm Moos Health Sciences Tower, 515 Delaware Street S.E., Minneapolis, MN 55455, USA European Journal of Plastic Surgery Springer Journals

Multiple pterygium syndrome

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Copyright © 1998 by Springer-Verlag Berlin Heidelberg
Medicine & Public Health; Plastic Surgery
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