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
Current Pediatric Reviews
Title: Previously Apparently Undescribed Autosomal-Recessive Multiple Congenital Anomalies/ Mental Retardation (MCA/MR) Syndrome Comprising: Fronto-Nasal Dysplasia, Hypertelorism, Short Stature and Brachydactily
Volume: 3 Issue: 4
Author(s): Motti Haimi and Ruth Gershoni-Baruch
Affiliation:
Keywords: Fronto-nasal dysplasia, hypertelorism, brachy-clinodactily, autosomal recessive inheritance
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.
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Cite this article as:
Haimi Motti and Gershoni-Baruch Ruth, Previously Apparently Undescribed Autosomal-Recessive Multiple Congenital Anomalies/ Mental Retardation (MCA/MR) Syndrome Comprising: Fronto-Nasal Dysplasia, Hypertelorism, Short Stature and Brachydactily, Current Pediatric Reviews 2007; 3 (4) . https://dx.doi.org/10.2174/157339607782411484
DOI https://dx.doi.org/10.2174/157339607782411484 |
Print ISSN 1573-3963 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-6336 |
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