Sousa, SB and Abdul-Rahman, OA and Bottani, A and Cormier-Daire, V and Fryer, A and Gillessen-Kaesbach, G and Horn, D and Josifova, D and Kuechler, A and Lees, M and MacDermot, K and Magee, A and Morice-Picard, F and Rosser, E and Sarkar, A and Shannon, N and Stolte-Dijkstra, I and Verloes, A and Wakeling, E and Wilson, L and Hennekam, RC (2009) Nicolaides-Baraitser syndrome: Delineation of the phenotype. Am J Med Genet A , 149A (8) 1628 - 1640. 10.1002/ajmg.a.32956.
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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.
| Type: | Article |
|---|---|
| Title: | Nicolaides-Baraitser syndrome: Delineation of the phenotype. |
| Location: | United States |
| DOI: | 10.1002/ajmg.a.32956 |
| Language: | English |
| Keywords: | Abnormalities, Multiple, Adolescent, Adult, Child, Child, Preschool, Disease Progression, Female, Follow-Up Studies, Humans, Infant, Infant, Newborn, Male, Phenotype, Syndrome, Young Adult |
| UCL classification: | UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology |
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