| Literature DB >> 6807090 |
U Burck, K R Held, H J Kitschke.
Abstract
As holoprosencephaly without chromosome defect may be associated with other CNS-related anomalies such as mental retardation, mental illness, facial paralysis, endocrine disorders, deafness, spina bifida, and myelomeningocele, we present a family in which one girl had a myelomeningocele, a brother had orbital hypotelorism, facial and cerebral asymmetries, cerebral palsy, abducens paralysis, and inner ear deafness. A 3rd pregnancy was terminated at 16 weeks; the fetus had cyclopia. A common cause is discussed in these cases and in those families in which holoprosencephaly and additional malformations occur among different generations.Entities:
Mesh:
Year: 1982 PMID: 6807090 DOI: 10.1002/ajmg.1320110409
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299