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
PubMed ID
3287923
Repository Citation
Townes PL, Reuter KL, Rosquete EE, Magee BD. (1988). XK aprosencephaly and anencephaly in sibs. Obstetrics and Gynecology Publications and Presentations. https://doi.org/10.1002/ajmg.1320290308. Retrieved from https://escholarship.umassmed.edu/obgyn_pp/96