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Familial holoprosencephaly.
Birth Defects Orig Artic Ser. 1971 Jun; 7(7):136-42.BD

Abstract

The authors report a family in which several individuals were born with various anomalies of the face and brain. An analysis of the pedigree supports the hypothesis that a single gene defect with variable expressivity and reduced penetrance is responsible for the familial faciocerebral syndrome described which may range from fusion of the eyelids to various combinations of bilateral or median cleft lip and palate, absent nose and single brain ventricle.

Authors

Dallaire L
No affiliation info available
Fraser FC
No affiliation info available
Wiglesworth FW
No affiliation info available

MeSH

Abnormalities, MultipleBrainChildChild, PreschoolCleft LipCleft PalateElectroencephalographyEyelidsFaceFemaleHumansHypospadiasInfantInfant, NewbornIntellectual DisabilityMaleMicrocephalyNasal BoneNose Deformities, AcquiredPedigree

Pub Type(s)

Journal Article

Language

eng

PubMed ID

5173201

Citation

Dallaire, L, et al. "Familial Holoprosencephaly." Birth Defects Original Article Series, vol. 7, no. 7, 1971, pp. 136-42.
Dallaire L, Fraser FC, Wiglesworth FW. Familial holoprosencephaly. Birth Defects Orig Artic Ser. 1971;7(7):136-42.
Dallaire, L., Fraser, F. C., & Wiglesworth, F. W. (1971). Familial holoprosencephaly. Birth Defects Original Article Series, 7(7), 136-42.
Dallaire L, Fraser FC, Wiglesworth FW. Familial Holoprosencephaly. Birth Defects Orig Artic Ser. 1971;7(7):136-42. PubMed PMID: 5173201.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial holoprosencephaly. AU - Dallaire,L, AU - Fraser,F C, AU - Wiglesworth,F W, PY - 1971/6/1/pubmed PY - 1971/6/1/medline PY - 1971/6/1/entrez SP - 136 EP - 42 JF - Birth defects original article series JO - Birth Defects Orig Artic Ser VL - 7 IS - 7 N2 - The authors report a family in which several individuals were born with various anomalies of the face and brain. An analysis of the pedigree supports the hypothesis that a single gene defect with variable expressivity and reduced penetrance is responsible for the familial faciocerebral syndrome described which may range from fusion of the eyelids to various combinations of bilateral or median cleft lip and palate, absent nose and single brain ventricle. SN - 0547-6844 UR - https://www.unboundmedicine.com/medline/citation/5173201/Familial_holoprosencephaly_ DB - PRIME DP - Unbound Medicine ER -