Bohring–Opitz syndrome: Difference between revisions
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{{Infobox disease |
{{Infobox disease |
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| Name = |
| Name = Bohring–Opitz syndrome |
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| OMIM = 605039 |
| OMIM = 605039 |
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'''Bohring–Opitz syndrome (BOS)''' is a medical syndrome characterised by characteristic craniofacial appearance, fixed contractures of the upper limbs and abnormal posture, feeding difficulties, intellectual disability, small size at birth and failure to thrive.<ref>{{cite journal | title = Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis | author1 = Hastings R | author2 = Cobben JM | author3 = Gillessen-Kaesbach G | author4 = et al.| journal = European Journal of Human Genetics | year = 2011 | volume = 19 | issue = 5 | pages = 513–519 | doi = 10.1038/ejhg.2010.234}}</ref> Some of these features are shared with other genetic syndromes. |
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Genetically, de novo truncating mutations in ASXL1 have been shown to account for approx 50% of |
Genetically, de novo truncating mutations in [[ASXL1]] have been shown to account for approx 50% of Bohring–Opitz syndrome cases.<ref>{{cite journal | title = ''De novo'' nonsense mutations in ''ASXL1'' cause Bohring-Opitz syndrome | author1 = Hoischen A | author2 = van Bon BW | author3 = Rodríguez-Santiago B | author4 = et al. | journal = Nature Genetics | year = 2011 | volume = 43 | issue = 8 | pages = 729–731 | doi = 10.1038/ng.868}}</ref><ref>{{cite journal | title = Two novel patients with Bohring–Opitz syndrome caused by de novo ''ASXL1'' mutations | author1 = Magini P | author2= Della Monica M | author3 = Uzielli ML | author4 = et al. | journal = American Journal of Medical Genetics Part A | year = 2012 | volume = 158A | issue = 4 | pages = 917–921 | doi = 10.1002/ajmg.a.35265}}</ref> |
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One infant was followed from birth, and became the oldest patient reported with |
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.<ref>{{cite journal | title = Evolution of a patient with Bohring–Opitz syndrome | author1 = Pierron S | author2 = Richelme C | author3 = Triolo V | author4 = et al. | journal = American Journal of Medical Genetics Part A | year = 2009 | volume = 149A | issue = 8 | pages = 1754–1757 | doi = 10.1002/ajmg.a.32910}}</ref> |
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Bohring–Opitz syndrome is sometimes also called Oberklaid–Danks syndrome. |
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== References == |
== References == |
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{{Reflist}} |
{{Reflist}} |
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[[Category:Genetic disorders]] |
[[Category:Genetic disorders]] |
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Revision as of 18:54, 5 February 2014
| Bohring–Opitz syndrome | |
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| Specialty | Medical genetics  |
Bohring–Opitz syndrome (BOS) is a medical syndrome characterised by characteristic craniofacial appearance, fixed contractures of the upper limbs and 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 approx 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.[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.
{{cite journal}}: Explicit use of et al. in:|author4=(help) - ^ 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.
{{cite journal}}: Explicit use of et al. in:|author4=(help) - ^ 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.
{{cite journal}}: Explicit use of et al. in:|author4=(help) - ^ 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.
{{cite journal}}: Explicit use of et al. in:|author4=(help)
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