How to cite this article: Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N, Stolte-Dijkstra I, Verloes A, Wakeling E, Wilson L, Hennekam RCM. 2009. Nicolaides–Baraitser syndrome: Delineation of the phenotype. Am J Med Genet Part A 149A:1628–1640.
Nicolaides–Baraitser syndrome: Delineation of the phenotype†
Article first published online: 15 JUL 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 8, pages 1628–1640, August 2009
How to Cite
Sousa, S. B., Abdul-Rahman, O. A., Bottani, A., Cormier-Daire, V., Fryer, A., Gillessen-Kaesbach, G., Horn, D., Josifova, D., Kuechler, A., Lees, M., MacDermot, K., Magee, A., Morice-Picard, F., Rosser, E., Sarkar, A., Shannon, N., Stolte-Dijkstra, I., Verloes, A., Wakeling, E., Wilson, L. and Hennekam, R. C.M. (2009), Nicolaides–Baraitser syndrome: Delineation of the phenotype. Am. J. Med. Genet., 149A: 1628–1640. doi: 10.1002/ajmg.a.32956
- Issue published online: 23 JUL 2009
- Article first published online: 15 JUL 2009
- Manuscript Accepted: 9 MAY 2009
- Manuscript Received: 12 JAN 2009
- Nicolaides–Baraitser syndrome;
- mental retardation;
- growth retardation;
- sparse hair;
- natural history;
- Coffin–Siris syndrome
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.