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Microcephaly in familial holoprosencephaly.
J Craniofac Genet Dev Biol. 1988; 8(1):53-61.JC

Abstract

The holoprosencephaly sequence (HS) is characterized by abnormalities in forebrain cleavage and midface development. Familial holoprosencephaly has been reported in several families and there appears to be variable expression of the disorder in those who inherit the gene. Previous investigators have suggested hypotelorism and/or missing central incisors as mild manifestations of autosomal dominant HS. We evaluated a large kindred with three individuals with severe brain anomalies and 12 individuals with minor manifestations of the disorder. The most consistent sign in those mildly affected was microcephaly. We suggest that head circumference is an important part of the evaluation of the relatives of a patient with holoprosencephaly.

Authors+Show Affiliations

Dept. of Pediatrics, University of Iowa, Iowa City 52242.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3209679

Citation

Ardinger, H H., and J A. Bartley. "Microcephaly in Familial Holoprosencephaly." Journal of Craniofacial Genetics and Developmental Biology, vol. 8, no. 1, 1988, pp. 53-61.
Ardinger HH, Bartley JA. Microcephaly in familial holoprosencephaly. J Craniofac Genet Dev Biol. 1988;8(1):53-61.
Ardinger, H. H., & Bartley, J. A. (1988). Microcephaly in familial holoprosencephaly. Journal of Craniofacial Genetics and Developmental Biology, 8(1), 53-61.
Ardinger HH, Bartley JA. Microcephaly in Familial Holoprosencephaly. J Craniofac Genet Dev Biol. 1988;8(1):53-61. PubMed PMID: 3209679.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Microcephaly in familial holoprosencephaly. AU - Ardinger,H H, AU - Bartley,J A, PY - 1988/1/1/pubmed PY - 1988/1/1/medline PY - 1988/1/1/entrez SP - 53 EP - 61 JF - Journal of craniofacial genetics and developmental biology JO - J Craniofac Genet Dev Biol VL - 8 IS - 1 N2 - The holoprosencephaly sequence (HS) is characterized by abnormalities in forebrain cleavage and midface development. Familial holoprosencephaly has been reported in several families and there appears to be variable expression of the disorder in those who inherit the gene. Previous investigators have suggested hypotelorism and/or missing central incisors as mild manifestations of autosomal dominant HS. We evaluated a large kindred with three individuals with severe brain anomalies and 12 individuals with minor manifestations of the disorder. The most consistent sign in those mildly affected was microcephaly. We suggest that head circumference is an important part of the evaluation of the relatives of a patient with holoprosencephaly. SN - 0270-4145 UR - https://www.unboundmedicine.com/medline/citation/3209679/Microcephaly_in_familial_holoprosencephaly_ L2 - http://www.diseaseinfosearch.org/result/3451 DB - PRIME DP - Unbound Medicine ER -