TY - JOUR
T1 - Nicolaides-Baraitser syndrome
T2 - Delineation of the phenotype
AU - Sousa, Sérgio B.
AU - Abdul-Rahman, Omar A.
AU - Bottani, Armand
AU - Cormier-Daire, Valérie
AU - Fryer, Alan
AU - Gillessen-Kaesbach, Gabriele
AU - Horn, Denise
AU - Josifova, Dragana
AU - Kuechler, Alma
AU - Lees, Melissa
AU - MacDermot, Kay
AU - Magee, Alex
AU - Morice-Picard, Fanny
AU - Rosser, Elizabeth
AU - Sarkar, Ajoy
AU - Shannon, Nora
AU - Stolte-Dijkstra, Irene
AU - Verloes, Alain
AU - Wakeling, Emma
AU - Wilson, Louise
AU - Hennekam, Raoul C.M.
PY - 2009/8
Y1 - 2009/8
N2 - 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.
AB - 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.
KW - Coffin-Siris syndrome
KW - Etiology
KW - Growth retardation
KW - Mental retardation
KW - Natural history
KW - Nicolaides-Baraitser syndrome
KW - Seizures
KW - Sparse hair
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U2 - 10.1002/ajmg.a.32956
DO - 10.1002/ajmg.a.32956
M3 - Article
C2 - 19606471
AN - SCOPUS:68049111462
SN - 1552-4825
VL - 149
SP - 1628
EP - 1640
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 8
ER -