Abstract
A family is described containing three sibs with holoprosencephaly. They showed a striking diversity of both cerebral and facial abnormalities. Autosomal recessive inheritance seems most likely. Because of the great variety in expression of this disorder, it is of importance for genetic counselling to examine both sibs and parents.
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- Cohen M. M., Jr An update on the holoprosencephalic disorders. J Pediatr. 1982 Nov;101(5):865–869. doi: 10.1016/s0022-3476(82)80349-1. [DOI] [PubMed] [Google Scholar]
- Cohen M. M., Jr, Jirásek J. E., Guzman R. T., Gorlin R. J., Peterson M. Q. Holoprosencephaly and facial dysmorphia: nosology, etiology and pathogenesis. Birth Defects Orig Artic Ser. 1971 Jun;7(7):125–135. [PubMed] [Google Scholar]
- DEMYER W., ZEMAN W., PALMER C. D. FAMILIAL ALOBAR HOLOPROSENCEPHALY (ARHINENCEPHALY) WITH MEDIAN CLEFT LIP AND PALATE. REPORT OF PATIENT WITH 46 CHROMOSOMES. Neurology. 1963 Nov;13:913–918. doi: 10.1212/wnl.13.11.913. [DOI] [PubMed] [Google Scholar]
- Hintz R. L., Menking M., Sotos J. F. Familial holoprosencephaly with endocrine dysgenesis. J Pediatr. 1968 Jan;72(1):81–87. doi: 10.1016/s0022-3476(68)80403-2. [DOI] [PubMed] [Google Scholar]
- Roach E., Demyer W., Conneally P. M., Palmer C., Merritt A. D. Holoprosencephaly: birth data, benetic and demographic analyses of 30 families. Birth Defects Orig Artic Ser. 1975;11(2):294–313. [PubMed] [Google Scholar]