Nicolaides-Baraitser syndrome: Delineation of the phenotype

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 WilsonRaoul C.M. Hennekam

Research output: Contribution to journalArticlepeer-review

41 Scopus citations

Abstract

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 througha 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.

Original languageEnglish (US)
Pages (from-to)1628-1640
Number of pages13
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number8
DOIs
StatePublished - Aug 2009

Keywords

  • Coffin-Siris syndrome
  • Etiology
  • Growth retardation
  • Mental retardation
  • Natural history
  • Nicolaides-Baraitser syndrome
  • Seizures
  • Sparse hair

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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