Document Detail


Ectrodactyly, ectodermal dysplasia, and cleft lip-palate (EEC) syndrome without clefting: a rare case report.
MedLine Citation:
PMID:  22398226     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Ectrodactyly, Ectodermal dysplasia, and Cleft lip-cleft palate (EEC) syndrome is a rare ectodermal dysplasia presenting with various combinations of its three components. It is an autosomal dominant disorder with variable expression and penetrance. Patients have features of ectodermal abnormalities and a split hand/foot deformity of the limbs. We report a case of this rare disorder in a 40-year-old male who had ectrodactyly, ectodermal dysplasia, but no clefting of lips or palate.
Authors:
Dipali D Malvankar; S Sacchidanand; M Mallikarjun
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2012-02-15
Journal Detail:
Title:  Dermatology online journal     Volume:  18     ISSN:  1087-2108     ISO Abbreviation:  Dermatol. Online J.     Publication Date:  2012 Feb 
Date Detail:
Created Date:  2012-03-08     Completed Date:  2012-07-17     Revised Date:  2012-10-04    
Medline Journal Info:
Nlm Unique ID:  9610776     Medline TA:  Dermatol Online J     Country:  United States    
Other Details:
Languages:  eng     Pagination:  5     Citation Subset:  IM    
Affiliation:
Department of Dermatology, Bangalore Medical College and Research Institute, Bangalore, India.
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MeSH Terms
Descriptor/Qualifier:
Adult
Cleft Lip / diagnosis
Cleft Palate / diagnosis
Corneal Opacity / congenital,  diagnosis
Ectodermal Dysplasia / diagnosis*
Fingers / abnormalities
Genetic Diseases, X-Linked / diagnosis
Hand Deformities, Congenital / diagnosis*
Humans
Keratitis / congenital,  diagnosis
Lacrimal Duct Obstruction / congenital,  diagnosis
Limb Deformities, Congenital / diagnosis
Male
Photophobia / congenital,  diagnosis
Syndrome
Treatment Outcome
Trichiasis / congenital,  diagnosis

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


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