Craniocervical anomalies in Dubowitz syndrome. Three cases and a literature review.
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.
Swartz
Karin R
KR
Department of Neurological Surgery, University of Wisconsin-Madison, Wisconsin 53792, USA. swartz@neurosurg.wisc.edu
Resnick
Daniel  K
D
Iskandar
Bermans J
BJ
Wargowski
David
D
Brockmeyer
Douglas
D
Opitz
John  M
J
D000328:Adult; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging* / Q000473:pathology; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000150:complications* / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D006130:Growth Disorders / Q000150:complications* / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications* / Q000000981:diagnostic imaging* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging* / Q000473:pathology; D013577:Syndrome; D014057:Tomography, X-Ray Computed