Nicolaides-Baraitser syndrome: Delineation of the phenotype.
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.
Sousa
Sérgio B
SB
Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.
Abdul-Rahman
Omar A
OA
Bottani
Armand
A
Cormier-Daire
Valérie
V
Fryer
Alan
A
Gillessen-Kaesbach
Gabriele
G
Horn
Denise
D
Josifova
Dragana
D
Kuechler
Alma
A
Lees
Melissa
M
MacDermot
Kay
K
Magee
Alex
A
Morice-Picard
Fanny
F
Rosser
Elizabeth
E
Sarkar
Ajoy
A
Shannon
Nora
N
Stolte-Dijkstra
Irene
I
Verloes
Alain
A
Wakeling
Emma
E
Wilson
Louise
L
Hennekam
Raoul C M
RC
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011859:Radiography; D013577:Syndrome; D055815:Young Adult