Title

XK aprosencephaly and anencephaly in sibs

UMMS Affiliation

Department of Pediatrics; Department of Radiology; Department of Obstetrics and Gynecology

Publication Date

1988-03-01

Document Type

Article

Subjects

Adult; Anencephaly; Brain; Face; Female; Humans; Infant, Newborn; Pregnancy; Prenatal Diagnosis; Skull; Syndrome; Ultrasonography

Disciplines

Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Genetics | Medical Genetics | Obstetrics and Gynecology

Abstract

Recent studies have suggested a causal and pathogenetic relationship between holoprosencephaly and anencephaly. In support of the proposed relationship we report a sibship that includes anencephalic male twins and a female infant with a severe form of alobar holoprosencephaly, radial aplasia, and oligodactyly. The upper limb and brain malformations are considered to represent aprosencephaly syndrome. The coexistence of anencephaly and aprosencephaly within a sibship suggests that XK aprosencephaly syndrome may be an autosomal recessive disorder.

Keywords

holoprosencephaly, atelencephaly, radial aplasia, autosomal recessive

DOI of Published Version

10.1002/ajmg.1320290308

Source

Am J Med Genet. 1988 Mar;29(3):523-8. Link to article on publisher's site

Journal/Book/Conference Title

American journal of medical genetics

Related Resources

Link to Article in PubMed

PubMed ID

3287923

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