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A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome.

Authors
  • Al-Qattan, Mohammad M1
  • Maddirevula, Sateesh2
  • Alkuraya, Fowzan S3
  • 1 Division of Plastic Surgery at King Saud University, Riyadh, Saudi Arabia; Division of Plastic Surgery at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. , (Saudi Arabia)
  • 2 Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. , (Saudi Arabia)
  • 3 Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address: [email protected] , (Saudi Arabia)
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Jan 01, 2020
Volume
63
Issue
1
Pages
103615–103615
Identifiers
DOI: 10.1016/j.ejmg.2019.01.005
PMID: 30654152
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Ulnar-mammary syndrome (UMS) is a rare syndromic limb malformation caused by heterozygous mutations in TBX3. The name highlights the two commonly involved body parts i.e. mammary gland and ulnar ray of the upper limbs, although a more extensive systemic involvement is also known to occur. Here, we report the surprising finding of a patient with a de novo mutation in TBX3 whose clinical presentation is limited to dorsalization of both little fingers and slightly deep 4th web spaces. We review the literature to confirm that this should be considered as a forme fruste phenotype of UMS. Copyright © 2019 Elsevier Masson SAS. All rights reserved.

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