Document Detail


Microcephalic osteodysplastic primordial dwarfism, with the fascinating history of "Mademoiselle Crachami".
MedLine Citation:
PMID:  24551984     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
This review critically examines the findings which characterize the dysmorphic, radiologic and behavioral phenotype of Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) and has an historical perspective on it. MOPD is a group of primordial dwarfism syndromes with prenatal onset growth retardation, a typical craniofacial appearance and behavioral phenotype. In 1959, Mann and Russell have described the first case in a detailed report, and named "microcephalic midget of extreme type". In their report; based on historical records and a small painting, they pointed "Mademoiselle Crachami" as the oldest known case.
Authors:
O Giray Bozkaya
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  24     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  2013  
Date Detail:
Created Date:  2014-02-20     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  405-16     Citation Subset:  IM    
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