The FG syndrome: Further characterization, report of a third family, and of a sporadic case

✍ Scribed by Riccardi, Vincent M. ;Hässler, Erich ;Lubinsky, Mark S. ;Opitz, J. M.

• Book ID: 102698907
• Publisher: John Wiley and Sons
• Year: 1977
• Tongue: English
• Weight: 635 KB
• Volume: 1
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320010106

✦ Synopsis

Abstract

We report 5 new cases of the FG syndrome, 1 sporadic, 3 brothers from a European family, and another affected male born in the first FG syndrome family reported by Opitz and Kaveggia in 1974. The pedigree data confirm the hypothesis of X‐linked inheritance of this multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its manifestations include shortness of stature with a disproportionately large head, mental retardation, hypotonia with or without congenital joint contractures, seizures and a strikingly characteristic personality and facial appearance, imperforate anus and/or other gastrointestinal defects, congenital heart defects, and many minor manifestations. Chronic pulmonary disease in some affected males may be a complication of hypotonia.