| Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature. | |
| | |
MedLine Citation:
|
PMID: 20661588 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
|
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945) is a rare congenital disorder. Only seven patients have been reported to date, and the etiology of this syndrome is unknown. Autosomal dominant inheritance with variable expression has been suggested based on the presence of minor features in some parents and the fact that neither parental consanguinity nor pairs of affected siblings were observed. We report on the first patient with this syndrome who was born to consanguineous parents. Neither the mother nor the father, who were first cousins, had clinical features suggestive of a manifestation of brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome. The patient had no siblings, and the family history was unremarkable. Clinical problems included brachydactyly of hands and feet, splaying of fingers and toes, preaxial polydactyly of feet, bilateral tibial aplasia, shortened radius and ulna, and characteristic facial dysmorphic signs. The detailed description of this patient adds to our knowledge of the clinical manifestations of brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome and will eventually also contribute to the elucidation of the underlying gene defects. |
| | |
Authors:
|
Yousef Shafeghati; Kimia Kahrizi; Hossein Najmabadi; Andreas Walter Kuss; Hans-Hilger Ropers; Andreas Tzschach |
Related Documents
:
|
14571658 - The yellow nail syndrome. 12868478 - Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in peho-like ... 20225048 - A case of adult periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis... 20437758 - An introduction to electrocardiogram interpretation: part 1. 8980888 - A case of schmidt syndrome accompanied by a pituitary adenoma. 9671418 - Distinguishing hantavirus pulmonary syndrome from acute respiratory distress syndrome b... |
Publication Detail:
|
Type: Journal Article Date: 2010-07-27 |
Journal Detail:
|
Title: European journal of pediatrics Volume: 169 ISSN: 1432-1076 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 2010 Dec |
Date Detail:
|
Created Date: 2010-10-25 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: Germany |
Other Details:
|
Languages: eng Pagination: 1535-9 Citation Subset: IM |
Affiliation:
|
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Identification and characterization of a novel miR159 target not related to MYB in tomato.
Next Document: Post-mortem MRI reveals CPT2 deficiency after sudden infant death.