| A case with bilateral radio-ulnar synostosis. | |
| | |
MedLine Citation:
|
PMID: 18618994 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Congenital radio-ulnar synostosis may be an isolated abnormality or additional abnormalities may accompany it. It may also be found as a part of well-known syndromes. We present a case with bilateral congenital radio-ulnar synostosis, speech delay, dimple on shoulders, café au lait spot and characteristic facial appearance. The proband has a brother with similar clinical findings with the exception of congenital radio-ulnar synostosis. We discuss the possible relationship between our case and previously described syndromes with congenital radio-ulnar synostosis, and distinct phenotypic features of the presented case. |
| | |
Authors:
|
A Koç; A O Kaymak; K Karaer; M A Ergün; T Aksu; E F Perçin |
Related Documents
:
|
7170954 - Congenital postural deformity association. 21087784 - Opalski syndrome detected on dwi mri: a rare lateral medullary infarction. case report ... 3703524 - The association of congenital ptosis and congenital heart disease. 17989524 - Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can ... 3066614 - Epileptic syndromes in childhood. 2585234 - Outcome of pectus excavatum in patients with marfan syndrome and in the general populat... |
Publication Detail:
|
Type: Case Reports; Journal Article; Review |
Journal Detail:
|
Title: Genetic counseling (Geneva, Switzerland) Volume: 19 ISSN: 1015-8146 ISO Abbreviation: Genet. Couns. Publication Date: 2008 |
Date Detail:
|
Created Date: 2008-07-14 Completed Date: 2008-09-09 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9015261 Medline TA: Genet Couns Country: Switzerland |
Other Details:
|
Languages: eng Pagination: 193-8 Citation Subset: IM |
Affiliation:
|
Department of Medical Genetics, Faculty of Medicine, Gazi University, Turkey. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple* Child Female Forearm / abnormalities Humans Language Development Disorders Male Mental Retardation Muscle Hypotonia Radius / abnormalities* Siblings Synostosis* Ulna / abnormalities* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family.
Next Document: Partial trisomy of the distal part of 10q: a report of two Egyptian cases.