Previously Apparently Undescribed Autosomal-Recessive Multiple Congenital Anomalies/ Mental Retardation (MCA/MR) Syndrome Comprising: Fronto-Nasal Dysplasia, Hypertelorism, Short Stature and Brachydactily

Author(s): Motti Haimi, Ruth Gershoni-Baruch.

Journal Name:Current Pediatric Reviews

Volume 3 , Issue 4 , 2007

Abstract:

We describe two sisters born to a consanguineous Arab Muslim couple in northern Israel. Among other clinical findings, both have moderate mental retardation, short stature, “leonine” facies, hypertelorism, broad nasal root, long philtrum, fronto-nasal dysplasia, pigmented lesions of the irises, brachy-clinodactily, apparantly low-set posteriorly angulated ears and a webbed neck. This association of anomalies defines a new syndrome. Parental consanguinity and familial occurrence in two sisters suggest autosomal recessive inheritance.

Keywords: Fronto-nasal dysplasia, hypertelorism, brachy-clinodactily, autosomal recessive inheritance

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Article Details

VOLUME: 3
ISSUE: 4
Year: 2007
Page: [328 - 331]
Pages: 4
DOI: 10.2174/157339607782411484
Price: $58