| New form of postaxial acrofacial dysostosis? | |
| | |
MedLine Citation:
|
PMID: 1776633 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
We report on a 2-month-old Sephardic Jewish girl with bilateral and symmetrical deficiency of the fifth digital rays of all 4 limbs, combined with severe deformations and other malformations of the limbs. These findings were associated with orofacial malformations, as well as with visceral anomalies differing from those found in other postaxial deficiency syndromes. Parents were closely consanguineous. We assume this patient represents a new form of postaxial acrofacial dysostosis. |
| | |
Authors:
|
R Arens; B Reichman; M B Katznelson; R M Goodman |
Related Documents
:
|
3287923 - Xk aprosencephaly and anencephaly in sibs. 8859033 - Clinicopathologic findings in the bannayan-riley-ruvalcaba syndrome. 6732413 - Overwhelming sepsis in the adult variant of wiskott-aldrich syndrome. |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: American journal of medical genetics Volume: 41 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1991 Dec |
Date Detail:
|
Created Date: 1992-02-28 Completed Date: 1992-02-28 Revised Date: 2004-11-17 |
Medline Journal Info:
|
Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 438-43 Citation Subset: IM |
Affiliation:
|
Department of Pediatrics, Chaim Sheba Medical Center, Tel-Hashomer, Israel. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
genetics Consanguinity Dysostoses / genetics*, pathology Ear, External / abnormalities Female Humans Infant Limb Deformities, Congenital Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Cataract, hypertrichosis, and mental retardation (CAHMR): a new autosomal recessive syndrome.
Next Document: True agonadism: report of a case analyzed with Y-specific DNA probes.