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Nicolaides–Baraitser syndrome: Delineation of the phenotype
Author(s) -
Sousa Sérgio B.,
AbdulRahman Omar A.,
Bottani Armand,
CormierDaire Valérie,
Fryer Alan,
GillessenKaesbach Gabriele,
Horn Denise,
Josifova Dragana,
Kuechler Alma,
Lees Melissa,
MacDermot Kay,
Magee Alex,
MoricePicard Fanny,
Rosser Elizabeth,
Sarkar Ajoy,
Shan Nora,
StolteDijkstra Irene,
Verloes Alain,
Wakeling Emma,
Wilson Louise,
Hennekam Raoul C.M.
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32956
Subject(s) - brachydactyly , phalanx , differential diagnosis , short stature , medicine , phenotype , dermatology , pediatrics , pathology , biology , genetics , anatomy , gene
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. © 2009 Wiley‐Liss, Inc.