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- W2008840504 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." @default.
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- W2008840504 date "1977-01-01" @default.
- W2008840504 modified "2023-10-18" @default.
- W2008840504 title "The FG syndrome: Further characterization, report of a third family, and of a sporadic case" @default.
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- W2008840504 doi "https://doi.org/10.1002/ajmg.1320010106" @default.
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