title: XK aprosencephaly and anencephaly in sibs.
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.
authors.affiliation: Department of Pediatrics, University of Massachusetts Medical Center, Worcester 01605.
authors.forename: P L
authors.initials: PL
authors.lastname: Townes
authors.forename: K
authors.initials: K
authors.lastname: Reuter
authors.forename: E E
authors.initials: EE
authors.lastname: Rosquete
authors.forename: B D
authors.initials: BD
authors.lastname: Magee
mesh_terms: D000328:Adult; D000757:Anencephaly / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014463:Ultrasonography