Document Detail

Nicolaides-Baraitser syndrome: Delineation of the phenotype.
MedLine Citation:
PMID:  19606471     Owner:  NLM     Status:  MEDLINE    
Nicolaides-Baraitser syndrome (NBS) is an infrequently described condition, thus far reported in five cases. In order to delineate the phenotype and its natural history in more detail, we gathered data on 18 hitherto unreported patients through a multi-center collaborative study, and follow-up data of the earlier reported patients. A detailed comparison of the 23 patients is provided. NBS is a distinct and recognizable entity, and probably has been underdiagnosed until now. Main clinical features are severe mental retardation with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges. Some of the features are progressive with time. The main differential diagnosis is Coffin-Siris syndrome. There is no important gender difference in occurrence and frequency of the syndrome, and all cases have been sporadic thus far. Microarray analysis performed in 14 of the patients gave normal results. Except for the progressive nature there are no clues to the cause.
Sérgio B Sousa; Omar A Abdul-Rahman; Armand Bottani; Valérie Cormier-Daire; Alan Fryer; Gabriele Gillessen-Kaesbach; Denise Horn; Dragana Josifova; Alma Kuechler; Melissa Lees; Kay MacDermot; Alex Magee; Fanny Morice-Picard; Elizabeth Rosser; Ajoy Sarkar; Nora Shannon; Irene Stolte-Dijkstra; Alain Verloes; Emma Wakeling; Louise Wilson; Raoul C M Hennekam
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  149A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2009 Aug 
Date Detail:
Created Date:  2009-07-30     Completed Date:  2009-09-30     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1628-40     Citation Subset:  IM    
Copyright Information:
2009 Wiley-Liss, Inc.
Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.
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MeSH Terms
Abnormalities, Multiple / diagnosis,  etiology,  pathology*,  radiography
Child, Preschool
Disease Progression
Follow-Up Studies
Infant, Newborn
Young Adult

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