TY - JOUR
T1 - Elsahy-Waters Syndrome: Evidence for Autosomal Recessive Inheritance
AU - Castori, Marco
AU - Cascone, Piero
AU - Valiante, Michele
AU - Laino, Luigi
AU - Iannetti, Giorgio
AU - Hennekam, Raoul C. M.
AU - Grammatico, Paola
PY - 2010
Y1 - 2010
N2 - 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 45year-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. (C) 2010 Wiley-Liss, Inc
AB - 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 45year-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. (C) 2010 Wiley-Liss, Inc
U2 - https://doi.org/10.1002/ajmg.a.33634
DO - https://doi.org/10.1002/ajmg.a.33634
M3 - Article
C2 - 20949527
SN - 1552-4825
VL - 152A
SP - 2810
EP - 2815
JO - American journal of medical genetics. Part A
JF - American journal of medical genetics. Part A
IS - 11
ER -