Bohring–Opitz syndrome
| Bohring–Opitz syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 605039 |
Bohring–Opitz syndrome (BOS) is a medical syndrome characterised by characteristic craniofacial appearance, fixed contractures of the upper limbs, abnormal posture, feeding difficulties, intellectual disability, small size at birth, and failure to thrive.[1] Some of these features are shared with other genetic syndromes.
Genetically, de novo truncating mutations in ASXL1 have been shown to account for approximately 50% of Bohring–Opitz syndrome cases.[2][3]
One infant was followed from birth, and became the oldest patient reported with Bohring–Opitz syndrome. Although this disease is often fatal in early childhood (mainly because of obstructive apnoea and unexplained bradycardia), this female patient received best available care and survived with significant psychomotor retardation to the age of 5 years 9 months at the time of the publication in 2009.[4]
Bohring–Opitz syndrome is sometimes also called Oberklaid–Danks syndrome.
References
- ↑ Hastings R; Cobben JM; Gillessen-Kaesbach G; et al. (2011). "Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis". European Journal of Human Genetics 19 (5): 513–519. doi:10.1038/ejhg.2010.234.
- ↑ Hoischen A; van Bon BW; Rodríguez-Santiago B; et al. (2011). "De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome". Nature Genetics 43 (8): 729–731. doi:10.1038/ng.868.
- ↑ Magini P; Della Monica M; Uzielli ML; et al. (2012). "Two novel patients with Bohring–Opitz syndrome caused by de novo ASXL1 mutations". American Journal of Medical Genetics Part A 158A (4): 917–921. doi:10.1002/ajmg.a.35265.
- ↑ Pierron S; Richelme C; Triolo V; et al. (2009). "Evolution of a patient with Bohring–Opitz syndrome". American Journal of Medical Genetics Part A 149A (8): 1754–1757. doi:10.1002/ajmg.a.32910.