Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance.

[dentin dysplasia]

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 .

Diseases
Validation

Diseases presenting "previously reported patients" symptom

dentin dysplasia

familial mediterranean fever

krabbe disease

monosomy 21

neonatal adrenoleukodystrophy

triple a syndrome

von hippel-lindau disease

wolf-hirschhorn syndrome

zellweger syndrome

You can validate or delete this automatically detected symptom