XK aprosencephaly and anencephaly in sibs
| dc.contributor.author | Townes, Phillip L. | |
| dc.contributor.author | Reuter, Karen L. | |
| dc.contributor.author | Rosquete, E. E. | |
| dc.contributor.author | Magee, B. Dale | |
| dc.date | 2022-08-11T08:10:06.000 | |
| dc.date.accessioned | 2022-08-23T16:56:08Z | |
| dc.date.available | 2022-08-23T16:56:08Z | |
| dc.date.issued | 1988-03-01 | |
| dc.date.submitted | 2014-10-08 | |
| dc.identifier.citation | <p>Am J Med Genet. 1988 Mar;29(3):523-8. <a href="https://doi.org/10.1002/ajmg.1320290308">Link to article on publisher's site</a></p> | |
| dc.identifier.issn | 0148-7299 (Linking) | |
| dc.identifier.doi | 10.1002/ajmg.1320290308 | |
| dc.identifier.pmid | 3287923 | |
| dc.identifier.uri | http://hdl.handle.net/20.500.14038/42864 | |
| dc.description.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. | |
| dc.language.iso | en_US | |
| dc.relation | <p><a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=3287923&dopt=Abstract">Link to Article in PubMed</a></p> | |
| dc.relation.url | https://doi.org/10.1002/ajmg.1320290308 | |
| dc.subject | Adult | |
| dc.subject | Anencephaly | |
| dc.subject | Brain | |
| dc.subject | Face | |
| dc.subject | Female | |
| dc.subject | Humans | |
| dc.subject | Infant, Newborn | |
| dc.subject | Pregnancy | |
| dc.subject | Prenatal Diagnosis | |
| dc.subject | Skull | |
| dc.subject | Syndrome | |
| dc.subject | Ultrasonography | |
| dc.subject | holoprosencephaly | |
| dc.subject | atelencephaly | |
| dc.subject | radial aplasia | |
| dc.subject | autosomal recessive | |
| dc.subject | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | |
| dc.subject | Genetics | |
| dc.subject | Medical Genetics | |
| dc.subject | Obstetrics and Gynecology | |
| dc.title | XK aprosencephaly and anencephaly in sibs | |
| dc.type | Journal Article | |
| dc.source.journaltitle | American journal of medical genetics | |
| dc.source.volume | 29 | |
| dc.source.issue | 3 | |
| dc.identifier.legacycoverpage | https://escholarship.umassmed.edu/obgyn_pp/96 | |
| dc.legacy.embargo | 2014-10-15T00:00:00-07:00 | |
| dc.identifier.contextkey | 6216607 | |
| html.description.abstract | <p>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.</p> | |
| dc.identifier.submissionpath | obgyn_pp/96 | |
| dc.contributor.department | Department of Obstetrics and Gynecology | |
| dc.contributor.department | Department of Radiology | |
| dc.contributor.department | Department of Pediatrics | |
| dc.source.pages | 523-8 |