Back to Search
Start Over
Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance
- Source :
- American journal of medical genetics. Part A, 152A(11), 2810-2815. Wiley-Liss Inc.
- Publication Year :
- 2010
- Publisher :
- Wiley, 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 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
- Subjects :
- Adult
Male
brachycephaly
medicine.medical_specialty
Adolescent
Inheritance Patterns
Genes, Recessive
mental retardation
elsahy-waters syndrome
Pregnancy
differential diagnosis
evolution
Genetics
Humans
Medicine
Prognathism
Abnormalities, Multiple
hypospadias
Craniofacial
Hypertelorism
branchioskeletogenital syndrome
branchial-skeletal-genital syndrome
Genetics (clinical)
business.industry
Skull
Infant, Newborn
Syndrome
Middle Aged
medicine.disease
Dermatology
Brother
Radiography
Hypospadias
Child, Preschool
Female
medicine.symptom
business
Exotropia
Brachycephaly
Facial symmetry
Subjects
Details
- ISSN :
- 15524825
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A
- Accession number :
- edsair.doi.dedup.....e8a4926a4c1ad6728da4dd3d4d6fb5aa