XK aprosencephaly and anencephaly in sibs

UMMS Affiliation

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



Document Type


Medical Subject Headings

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


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


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.

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

Related Resources

Link to Article in PubMed


holoprosencephaly, atelencephaly, radial aplasia, autosomal recessive

PubMed ID