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Link to original content: https://pubmed.ncbi.nlm.nih.gov/6538755/
A new X-linked mental retardation-overgrowth syndrome - PubMed Skip to main page content
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Case Reports
. 1984 Jan;17(1):345-58.
doi: 10.1002/ajmg.1320170128.

A new X-linked mental retardation-overgrowth syndrome

M Golabi, L Rosen
Case Reports

A new X-linked mental retardation-overgrowth syndrome

M Golabi et al. Am J Med Genet. 1984 Jan.

Abstract

We report on a family with 4 affected males in 3 generations with a previously unreported X-linked mental retardation/multiple congenital anomaly (XLMR/MCA) syndrome. The propositus was a 7-year-old Latin American moderately retarded male with: prenatal and postnatal overgrowth; short, broad upturned nose; large mouth; midline groove of tongue, lower alveolar ridge and lower lip; submucous cleft palate; supernumerary nipples; 13 ribs; Meckel's diverticulum; intestinal malrotation; coccygeal skin tag and bony appendage; hypoplastic index fingernails; postaxial polydactyly of the right hand, bilateral syndactyly of 2nd and 3rd fingers; and tibial clinodactyly of 2nd toes. His sister's son, a premature infant who died at 4 months, had nearly identical manifestations. The propositus and his nephew had normal chromosomes. A brother and son of the sister of the mother of the propositus were similarly affected and both died in the newborn period. The mother of the propositus had a large mouth, coccygeal skin tag and bony appendage, and hypoplastic index fingernails. This distinct mental retardation/multiple congenital anomaly syndrome is added to the growing list of presently known X-linked MCA/MR syndromes.

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