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A new X-linked mental retardation-overgrowth syndrome.
Am J Med Genet. 1984 Jan; 17(1):345-58.AJ

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.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6538755

Citation

Golabi, M, and L Rosen. "A New X-linked Mental Retardation-overgrowth Syndrome." American Journal of Medical Genetics, vol. 17, no. 1, 1984, pp. 345-58.
Golabi M, Rosen L. A new X-linked mental retardation-overgrowth syndrome. Am J Med Genet. 1984;17(1):345-58.
Golabi, M., & Rosen, L. (1984). A new X-linked mental retardation-overgrowth syndrome. American Journal of Medical Genetics, 17(1), 345-58.
Golabi M, Rosen L. A New X-linked Mental Retardation-overgrowth Syndrome. Am J Med Genet. 1984;17(1):345-58. PubMed PMID: 6538755.
* Article titles in AMA citation format should be in sentence-case
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 -