| Oral-facial-digital syndrome with fibular aplasia: a new variant. | |
| | |
MedLine Citation:
|
PMID: 8261648 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
The oral-facial-digital (OFD) syndromes constitute a heterogeneous group of entities usually associated with certain features that permit a specific diagnosis. This report refers to a 10-month-old girl with cleft palate, mesomelic limb shortening, oligopolydactyly, and fibular aplasia. Since this combination has not been described previously, it is proposed as a distinct type of oral-facial-digital syndrome, and we suggest mutations of homeotic genes to explain some abnormalities present in the OFD syndromes. |
| | |
Authors:
|
L E Figuera; F Rivas; J M Cantú |
Related Documents
:
|
8372078 - Prenatal transvaginal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate... 402078 - Ocular abnormalities in the median cleft face syndrome. 17456968 - Clinical and intraoral findings of a patient with tricho-rhino-phalangeal syndrome type i. 8736598 - Neu-laxova syndrome: pathological evaluation of a fetus and review of the literature. 8461858 - Icd-10 harmful use of alcohol and the alcohol dependence syndrome: prevalence and impli... 22009358 - Clinical aspects of the fragile x syndrome. |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Clinical genetics Volume: 44 ISSN: 0009-9163 ISO Abbreviation: Clin. Genet. Publication Date: 1993 Oct |
Date Detail:
|
Created Date: 1994-01-27 Completed Date: 1994-01-27 Revised Date: 2004-11-17 |
Medline Journal Info:
|
Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: DENMARK |
Other Details:
|
Languages: eng Pagination: 190-2 Citation Subset: IM |
Affiliation:
|
División de Genética, CMNO-IMSS, Guadalajara, Jalisco, Mexico. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Female Humans Infant Orofaciodigital Syndromes / pathology* Phenotype |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Mosaic trisomy 16 in a thriving infant: maternal heterodisomy for chromosome 16.
Next Document: Alternate, adjacent 2 and 3:1 meiotic segregation products from a balanced t(13;18) (q12;q11) carrie...