Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance.

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.

• Authors: Marco Castori, Piero Cascone, Michele Valiante, Luigi Laino, Giorgio Iannetti, Raoul C M Hennekam, Paola Grammatico
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 152A Issue 11 Pg. 2810-5 (Nov 2010) ISSN: 1552-4833 [Electronic] United States
• PMID: 20949527 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2010 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (diagnostic imaging, genetics, pathology)
• Adolescent
• Adult
• Child, Preschool
• Female
• Genes, Recessive (genetics)
• Humans
• Infant, Newborn
• Inheritance Patterns (genetics)
• Male
• Middle Aged
• Pregnancy
• Radiography
• Skull (diagnostic imaging, pathology)
• Syndrome