Elsahy-Waters or branchioskeletogenital syndrome is a rare MCA/MR syndrome characterized by moderate mental retardation, hypospadias and characteristic craniofacial morphology, which includes brachycephaly, facial asymmetry, exotropia, hypertelorism/telechantus, broad nose, concave nasal ridge, underdeveloped midface, prognathism, and radicular dentin dysplasia. Here we report on a 44-year-old woman and her 45-year-old brother, born to consanguineous parents, who show a striking resemblance to the earlier described patients. The hitherto reported patients were male and in one pedigree parents were consanguineous. The present report of an affected woman and her brother, born to consanguineous parents, supports autosomal recessive inheritance of this condition. We provide a short review of all previously reported patients with Elsahy-Waters syndrome and related entities. © 2010 Wiley-Liss, Inc.

Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance / Marco, Castori; Cascone, Piero; Michele, Valiante; Laino, Luigi; Iannetti, Giorgio; Raoul C. M., Hennekam; Grammatico, Paola. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - STAMPA. - 152A:11(2010), pp. 2810-2815. [10.1002/ajmg.a.33634]

Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance

CASCONE, PIERO;LAINO, LUIGI;IANNETTI, Giorgio;GRAMMATICO, Paola
2010

Abstract

Elsahy-Waters or branchioskeletogenital syndrome is a rare MCA/MR syndrome characterized by moderate mental retardation, hypospadias and characteristic craniofacial morphology, which includes brachycephaly, facial asymmetry, exotropia, hypertelorism/telechantus, broad nose, concave nasal ridge, underdeveloped midface, prognathism, and radicular dentin dysplasia. Here we report on a 44-year-old woman and her 45-year-old brother, born to consanguineous parents, who show a striking resemblance to the earlier described patients. The hitherto reported patients were male and in one pedigree parents were consanguineous. The present report of an affected woman and her brother, born to consanguineous parents, supports autosomal recessive inheritance of this condition. We provide a short review of all previously reported patients with Elsahy-Waters syndrome and related entities. © 2010 Wiley-Liss, Inc.
2010
mental retardation; branchioskeletogenital syndrome; differential diagnosis; hypospadias; branchial-skeletal-genital syndrome; evolution; brachycephaly; elsahy-waters syndrome
01 Pubblicazione su rivista::01a Articolo in rivista
Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance / Marco, Castori; Cascone, Piero; Michele, Valiante; Laino, Luigi; Iannetti, Giorgio; Raoul C. M., Hennekam; Grammatico, Paola. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - STAMPA. - 152A:11(2010), pp. 2810-2815. [10.1002/ajmg.a.33634]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/423762
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