Desbuquois syndrome in an Arab Bedouin family
- PMID: 9001812
- DOI: 10.1111/j.1399-0004.1996.tb02639.x
Desbuquois syndrome in an Arab Bedouin family
Abstract
We report a consanguineous Arab Bedouin family with Desbuquois syndrome, an AR syndrome of a midface hypoplasia and joint laxity. We believe this is the first report of this syndrome in Arab Bedouins.
Similar articles
-
Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed.Am J Med Genet. 1997 Mar 17;69(2):126-32. Am J Med Genet. 1997. PMID: 9056548
-
Oto-facio-osseous-gonadal syndrome: a new form of syndromic deafness?Clin Genet. 1997 Jul;52(1):51-5. doi: 10.1111/j.1399-0004.1997.tb02514.x. Clin Genet. 1997. PMID: 9272713
-
Desbuquois syndrome.Eur J Pediatr. 1991 Sep;150(11):793-6. doi: 10.1007/BF02026714. Eur J Pediatr. 1991. PMID: 1959544
-
Kenny-Caffey syndrome: an Arab variant?Clin Genet. 1999 Jan;55(1):44-9. doi: 10.1034/j.1399-0004.1999.550108.x. Clin Genet. 1999. PMID: 10066031 Review.
-
Central nervous system malformations, dense bones and facial dysmorphism: a new autosomal recessive syndrome.Clin Dysmorphol. 1998 Apr;7(2):123-6. doi: 10.1097/00019605-199804000-00008. Clin Dysmorphol. 1998. PMID: 9571283 Review.
Cited by
-
Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.Int J Mol Sci. 2024 Sep 7;25(17):9700. doi: 10.3390/ijms25179700. Int J Mol Sci. 2024. PMID: 39273648 Free PMC article. Review.
-
First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.Mol Syndromol. 2021 Aug;12(5):279-288. doi: 10.1159/000516607. Epub 2021 Jul 22. Mol Syndromol. 2021. PMID: 34602954 Free PMC article.
-
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.Eur J Hum Genet. 2011 Nov;19(11):1133-7. doi: 10.1038/ejhg.2011.101. Epub 2011 Jun 8. Eur J Hum Genet. 2011. PMID: 21654728 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
Research Materials