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J Med Genet. 1989 April; 26(4): 274–276.
PMCID: PMC1017303

Holoprosencephaly: variation of expression in face and brain in three sibs.

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Hintz RL, Menking M, Sotos JF. Familial holoprosencephaly with endocrine dysgenesis. J Pediatr. 1968 Jan;72(1):81–87. [PubMed]
  • DEMYER W, ZEMAN W, PALMER CD. FAMILIAL ALOBAR HOLOPROSENCEPHALY (ARHINENCEPHALY) WITH MEDIAN CLEFT LIP AND PALATE. REPORT OF PATIENT WITH 46 CHROMOSOMES. Neurology. 1963 Nov;13:913–918. [PubMed]
  • Cohen MM, Jr, Jirásek JE, Guzman RT, Gorlin RJ, Peterson MQ. Holoprosencephaly and facial dysmorphia: nosology, etiology and pathogenesis. Birth Defects Orig Artic Ser. 1971 Jun;7(7):125–135. [PubMed]
  • Cohen MM., Jr An update on the holoprosencephalic disorders. J Pediatr. 1982 Nov;101(5):865–869. [PubMed]
  • Roach E, Demyer W, Conneally PM, Palmer C, Merritt AD. Holoprosencephaly: birth data, benetic and demographic analyses of 30 families. Birth Defects Orig Artic Ser. 1975;11(2):294–313. [PubMed]

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