TY - JOUR T1 - A new X-linked mental retardation-overgrowth syndrome. AU - Golabi,M, AU - Rosen,L, PY - 1984/1/1/pubmed PY - 1984/1/1/medline PY - 1984/1/1/entrez SP - 345 EP - 58 JF - American journal of medical genetics JO - Am J Med Genet VL - 17 IS - 1 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6538755/A_new_X_linked_mental_retardation_overgrowth_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1984&volume=17&issue=1&spage=345 DB - PRIME DP - Unbound Medicine ER -