Craniocervical Anomalies in Dubowitz Syndrome
- 16 April 2003
- journal article
- case report
- Published by S. Karger AG in Pediatric Neurosurgery
- Vol. 38 (5) , 238-243
- https://doi.org/10.1159/000069822
Abstract
Dubowitz syndrome is a disorder involving craniofacial abnormalities, growth retardation and mental retardation. Approximately 142 cases have been reported, with various associated other anomalies. These include cardiovascular, urogenital and endocrine abnormalities, as well as a predisposition to infections and hematological malignancies. Scoliosis has been described in association with this syndrome, as have isolated vertebral abnormalities. There has, however, been no description of craniocervical abnormalities. We describe three Dubowitz patients with significant craniocervical abnormalities.Keywords
This publication has 5 references indexed in Scilit:
- Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndromeAmerican Journal of Medical Genetics, 2000
- Dubowitz syndrome: A defect in the cholesterol biosynthetic pathway?American Journal of Medical Genetics, 1999
- Dubowitz syndrome in a boy without developmental delay: Further evidence for phenotypic variabilityAmerican Journal of Medical Genetics, 1997
- Dubowitz syndrome: Review of 141 cases including 36 previously unreported patientsAmerican Journal of Medical Genetics, 1996
- Co-existence of Dubowitz and hyper-IgE syndromes: a case reportEuropean Journal of Pediatrics, 1996