title: Nicolaides-Baraitser syndrome: Delineation of the phenotype.
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 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.
authors.affiliation: Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.
authors.forename: Sérgio B
authors.initials: SB
authors.lastname: Sousa
authors.forename: Omar A
authors.initials: OA
authors.lastname: Abdul-Rahman
authors.forename: Armand
authors.initials: A
authors.lastname: Bottani
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: Alan
authors.initials: A
authors.lastname: Fryer
authors.forename: Gabriele
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: Denise
authors.initials: D
authors.lastname: Horn
authors.forename: Dragana
authors.initials: D
authors.lastname: Josifova
authors.forename: Alma
authors.initials: A
authors.lastname: Kuechler
authors.forename: Melissa
authors.initials: M
authors.lastname: Lees
authors.forename: Kay
authors.initials: K
authors.lastname: MacDermot
authors.forename: Alex
authors.initials: A
authors.lastname: Magee
authors.forename: Fanny
authors.initials: F
authors.lastname: Morice-Picard
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Rosser
authors.forename: Ajoy
authors.initials: A
authors.lastname: Sarkar
authors.forename: Nora
authors.initials: N
authors.lastname: Shannon
authors.forename: Irene
authors.initials: I
authors.lastname: Stolte-Dijkstra
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
authors.forename: Emma
authors.initials: E
authors.lastname: Wakeling
authors.forename: Louise
authors.initials: L
authors.lastname: Wilson
authors.forename: Raoul C M
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: 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