Document Detail


Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome.
MedLine Citation:
PMID:  14564152     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The ulnar-mammary syndrome (MIM 181450) includes postaxial ray defects, abnormalities of growth, delayed sexual development, and mammary and apocrine gland hypoplasia. Brachydactyly type E (MIM 113300) presents with shortening of the metacarpals and phalanges in the ulnar ray in association with moderately short stature. We describe a three-generation family with variable expression of ulnar/fibular hypoplasia, brachydactyly, ulnar ray defects and short stature. The proband had ulnar hypoplasia with missing IV-Vth fingers, fibular hypoplasia on the right, bilateral club feet, growth retardation, a hypoplastic mid-face, an ASD and hemangiomas. She had normal mammary tissue and normal sweating. The mother had short stature, midfacial hypoplasia, a hypoplastic ulna and hypoplasia of the IVth metacarpal (brachydactyly) on the right without other associated malformations. The maternal grandfather had mild bilateral fibular hypoplasia and midphalangeal brachydactyly of the IV-Vth toes. His sister had mild short stature and shortening of the IVth metacarpal of the left hand. Two-point linkage analysis with microsatellite markers spanning the Ulnar-Mammary locus at 12q24.1 did not confirm linkage. The patients may have a previously undescribed syndrome.
Authors:
Eva Morava; Marta Czakó; Judit Kárteszi; Beatrix Cser; Karen Weissbecker; Karoly Méhes
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  12     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2003 Jul 
Date Detail:
Created Date:  2003-10-20     Completed Date:  2004-03-15     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  161-5     Citation Subset:  IM    
Affiliation:
University of Pécs, Medical Faculty, Department of Medical Genetics and Child Development, Pécs, Hungary. emorava@yahoo.com
Data Bank Information
Bank Name/Acc. No.:
OMIM/113300;  142900;  181450;  601620;  601621
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MeSH Terms
Descriptor/Qualifier:
Adult
Body Height
Family Health
Female
Fingers / abnormalities
Genes, Dominant*
Hand Deformities, Congenital / genetics*,  pathology*
Humans
Infant
Male
Metacarpus / abnormalities
Pedigree
Ulna / abnormalities*
Grant Support
ID/Acronym/Agency:
1P41RR03655/RR/NCRR NIH HHS

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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