Tags

Type your tag names separated by a space and hit enter

Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2.
Cleft Palate Craniofac J. 2015 Mar; 52(2):237-9.CP

Abstract

Mandibulofacial dysostosis with microcephaly is a rare syndromic craniofacial condition caused by heterozygous loss-of-function mutations of the EFTUD2 gene on 17q21.31. Thus far, the described musculoskeletal findings in patients with this condition include proximally placed or duplicated thumbs, overlapping toes, and toe syndactyly. We describe a severe case of a patient with a 17q21.31 microdeletion and many of the phenotypic features described in mandibulofacial dysostosis with microcephaly who had bilateral proximal radioulnar synostosis and brain abnormalities. This provides further evidence of the clinical overlap among mandibulofacial and acrofacial dysostoses syndromes and expands the phenotype of EFTUD2 haploinsufficiency due to larger deletions.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24805776

Citation

Zarate, Yuri A., et al. "Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2." The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, vol. 52, no. 2, 2015, pp. 237-9.
Zarate YA, Bell C, Schaefer GB. Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2. Cleft Palate Craniofac J. 2015;52(2):237-9.
Zarate, Y. A., Bell, C., & Schaefer, G. B. (2015). Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2. The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, 52(2), 237-9. https://doi.org/10.1597/13-221
Zarate YA, Bell C, Schaefer GB. Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2. Cleft Palate Craniofac J. 2015;52(2):237-9. PubMed PMID: 24805776.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2. AU - Zarate,Yuri A, AU - Bell,Carla, AU - Schaefer,G Bradley, Y1 - 2014/05/07/ PY - 2014/5/9/entrez PY - 2014/5/9/pubmed PY - 2018/2/6/medline KW - 17q21.31 microdeletion KW - EFTUD2 KW - mandibulofacial dysostosis KW - spliceosome SP - 237 EP - 9 JF - The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association JO - Cleft Palate Craniofac J VL - 52 IS - 2 N2 - Mandibulofacial dysostosis with microcephaly is a rare syndromic craniofacial condition caused by heterozygous loss-of-function mutations of the EFTUD2 gene on 17q21.31. Thus far, the described musculoskeletal findings in patients with this condition include proximally placed or duplicated thumbs, overlapping toes, and toe syndactyly. We describe a severe case of a patient with a 17q21.31 microdeletion and many of the phenotypic features described in mandibulofacial dysostosis with microcephaly who had bilateral proximal radioulnar synostosis and brain abnormalities. This provides further evidence of the clinical overlap among mandibulofacial and acrofacial dysostoses syndromes and expands the phenotype of EFTUD2 haploinsufficiency due to larger deletions. SN - 1545-1569 UR - https://www.unboundmedicine.com/medline/citation/24805776/Radioulnar_Synostosis_and_Brain_Abnormalities_in_a_Patient_With_17q21_31_Microdeletion_Involving_EFTUD2_ L2 - https://journals.sagepub.com/doi/10.1597/13-221?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -