The FG syndrome: further characterization, report of a third family, and of a sporadic case.
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 of facial appearance, imperforate anus and/or orthe gastrointestinal defects, congenital heart defects, and many minor manifestations. Chronic pulmonary disease in some affected males may be a complication of hypotonia.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001006:Anus, Imperforate / Q000235:genetics*; D002648:Child; D004423:Ear / Q000002:abnormalities; D005260:Female; D005500:Follow-Up Studies; D008040:Genetic Linkage; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007592:Joint Diseases / Q000235:genetics; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014960:X Chromosome