XK aprosencephaly and anencephaly in sibs
Townes, Phillip L. ; Reuter, Karen L. ; Rosquete, E. E. ; Magee, B. Dale
Townes, Phillip L.
Reuter, Karen L.
Rosquete, E. E.
Magee, B. Dale
Citations
Altmetric:
Student Authors
Faculty Advisor
Academic Program
UMass Chan Affiliations
Document Type
Journal Article
Publication Date
1988-03-01
Keywords
Adult
Anencephaly
Brain
Face
Female
Humans
Infant, Newborn
Pregnancy
Prenatal Diagnosis
Skull
Syndrome
Ultrasonography
holoprosencephaly
atelencephaly
radial aplasia
autosomal recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetics
Medical Genetics
Obstetrics and Gynecology
Anencephaly
Brain
Face
Female
Humans
Infant, Newborn
Pregnancy
Prenatal Diagnosis
Skull
Syndrome
Ultrasonography
holoprosencephaly
atelencephaly
radial aplasia
autosomal recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetics
Medical Genetics
Obstetrics and Gynecology
Subject Area
Embargo Expiration Date
Link to Full Text
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.
Source
Am J Med Genet. 1988 Mar;29(3):523-8. Link to article on publisher's site
Year of Medical School at Time of Visit
Sponsors
Dates of Travel
DOI
10.1002/ajmg.1320290308
Permanent Link to this Item
PubMed ID
3287923