A new X-linked mental retardation-overgrowth syndrome

American Journal of Medical Genetics
M Golabi, L Rosen

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.

References

Jun 1, 1974·Journal of Medical Genetics·S NevoJ Levy
Dec 1, 1971·American Journal of Diseases of Children·M M CohenR W ten Bensel
Dec 1, 1971·American Journal of Diseases of Children·A P Eaton, W F Maurer
May 1, 1983·American Journal of Medical Genetics·F Halal
Aug 1, 1982·American Journal of Medical Genetics·F Halal
Dec 1, 1980·Clinical Genetics·R H RuvalcabaD W Smith

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Citations

Mar 1, 1994·European Journal of Pediatrics·B BratanicM Novosel-Sever
Dec 17, 2004·Clinical Dysmorphology·Ruth Day, Alan Fryer
Mar 21, 1998·Journal of Medical Genetics·P LapunzinaR Hughes-Benzie
Aug 24, 2001·The Journal of Clinical Investigation·J Filmus, S B Selleck
Aug 29, 2003·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Tomohide TaniyamaKenji Takada
Jun 23, 2015·American Journal of Medical Genetics. Part a·Cathy A Stevens
Dec 23, 2015·American Journal of Medical Genetics. Part a·Soumeyya HalayemAsma Bouden
Jul 28, 2009·International Journal of Pediatric Otorhinolaryngology·Emma GlamuzinaMurali Mahadevan
Dec 4, 2008·Advances in Pediatrics·Juan F Sotos, Jesús Argente
Dec 29, 2007·Seminars in Fetal & Neonatal Medicine·C Deshpande, R C M Hennekam
Jan 30, 2007·Experimental and Molecular Pathology·Baruch D Jakubovic, Serge Jothy
Jul 18, 2009·Prenatal Diagnosis·Neeta Vora, Diana W Bianchi
Sep 14, 2007·Clinical Genetics·V RomanelliP Lapunzina
Apr 23, 2013·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Edouard CottereauAnnick Toutain
Oct 30, 2013·American Journal of Medical Genetics. Part a·G NeriJ M Opitz
Nov 18, 2010·American Journal of Medical Genetics. Part a·John WatersonMahin Golabi
Nov 12, 2013·American Journal of Medical Genetics. Part a·Edouard CottereauAnnick Toutain
Jun 6, 2003·Biochemical and Biophysical Research Communications·Tetsuya NakatsuraYasuharu Nishimura
Jan 1, 1984·American Journal of Medical Genetics·J M Opitz, G R Sutherland
Jan 1, 1984·American Journal of Medical Genetics·J M Opitz
Jan 1, 1987·American Journal of Medical Genetics·L RodewaldM L Lee
Mar 14, 2012·Fetal and Pediatric Pathology·Konstantinos EkmektzoglouTheodoros Xanthos
Feb 16, 2002·Developmental Biology·Eric ChiaoArgiris Efstratiadis
Sep 23, 2014·Orphanet Journal of Rare Diseases·Jair TenorioPablo Lapunzina
Jun 23, 2000·The British Journal of Oral & Maxillofacial Surgery·M Krimmel, S Reinert
Apr 12, 2015·Current Problems in Pediatric and Adolescent Health Care·Naomi Yachelevich
Mar 21, 2000·American Journal of Human Genetics·V ShashiT C Hart
Sep 24, 2014·European Archives of Paediatric Dentistry : Official Journal of the European Academy of Paediatric Dentistry·M BayramF Seymen
Oct 16, 2016·American Journal of Medical Genetics. Part a·Alessandro VaisfeldGiovanni Neri
Apr 4, 2017·American Journal of Medical Genetics. Part a·Julia SchmidtGabriele Gillessen-Kaesbach
Jan 22, 1996·American Journal of Medical Genetics·N J LeonardC Johnson
Nov 1, 1996·Medical and Pediatric Oncology·R Weksberg, J A Squire

❮ Previous
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