XK aprosencephaly and anencephaly in sibs.
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.
Townes
P L
PL
Department of Pediatrics, University of Massachusetts Medical Center, Worcester 01605.
Reuter
K
K
Rosquete
E E
EE
Magee
B D
BD
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