Document Detail

Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature.
MedLine Citation:
PMID:  15930898     Owner:  NLM     Status:  MEDLINE    
Microcephaly-lymphoedema-chorioretinal dysplasia (MIM 152950) has been described as a distinct clinical entity. The mode of inheritance is uncertain, but male to male transmission has been observed supporting autosomal dominant inheritance. A characteristic facial phenotype has recently been suggested. We report three isolated male patients with this condition who have all of the major features and share a distinct facial appearance with upslanting palpebral fissures, a broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, pointed chin and prominent ears. The clinical features in our patients support the hypothesis of a characteristic facial phenotype in this syndrome.
Pradeep C Vasudevan; Sixto Garcia-Minaur; Maria Pilar Botella; Antonio Perez-Aytes; Nora L Shannon; Oliver W J Quarrell
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  14     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2005 Jul 
Date Detail:
Created Date:  2005-06-02     Completed Date:  2005-09-20     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  109-16     Citation Subset:  IM    
Sheffield Children's Hospital, Sheffield, UK.
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MeSH Terms
Abnormalities, Multiple / genetics,  pathology*
Child, Preschool
Face / abnormalities
Genes, Dominant / genetics
Infant, Newborn
Lymphedema / pathology*
Microcephaly / pathology*
Retinal Dysplasia / pathology*

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