Report of a third kindred with X-linked anencephaly/spina bifida.
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Anencephaly↗
Biomedical subjects
H V Toriello
Publications and source records attributed to H V Toriello.
Autosomal-recessive aplasia cutis congenita--report of two affected sibs.
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Abnormalities, Multiple↗
Occurrence of neural tube defects among first-, second-, and third-degree relatives of probands: results of a United States study.
Data on the occurrence of neural tube defects in first-, second-, and third-degree relatives of probands were collected in a United States study. The proportions of affected individuals were 3.2%, 0.5%, and 0.17% respectively. These findings are compared to those from other recent North American studies, and differences are discussed. It is pointed out that accurate recurrence risk figures may not be available, and that caution should be used when counseling families with relatives who are affected with NTD.
Cleft Lip↗
Brief communication: possible X-linked anencephaly and spina bifida--report of a kindred.
Causal heterogeneity of anencephaly and spina bifida has been demonstrated; in rare families the neural tube defect may be caused by a single gene. We report a family in which four cases of anencephaly or spina bifida may represent X-linked inheritance.
Abnormalities, Multiple↗
Re-evaluation of CHANDS.
A rare ectodermal dysplasia with the acronym CHANDS (Curly Hair, Ankyloblepharon, Nail Dysplasia Syndrome) was described by Baughman (1971) as being a new autosomal dominant condition. Additional pedigree data obtained after the original report indicate that the mode of inheritance is more likely to be autosomal recessive, with an instance of quasi-dominant transmission as a result of multiple consanguineous matings in the family. These data are provided in this report.
Ataxia Telangiectasia↗