Lethal multiple pterygium syndrome: Report of a case with neurological anomalies

✍ Scribed by Spearritt, D. J. ;Tannenberg, A. E. G. ;Payton, D. J.

• Publisher: John Wiley and Sons
• Year: 1993
• Tongue: English
• Weight: 607 KB
• Volume: 47
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320470110

✦ Synopsis

We report on a 22-week female fetus with multiple pterygia, congenital joint contractures, muscle hypoplasia, cystic hygroma, hydrops, pulmonary and cardiac hypoplasia, facial anomalies, and growth retardation. Examination also documented microcephaly, brain immaturity, and severe cerebellar and pontine hypoplasia with absence of the pyramidal tracts. The spinal cord showed a marked decrease in size of all white matter tracts. The muscles were markedly hypoplastic. The relation of the neurological findings to the development of the syndrome is discussed.