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  The face of Ulnar Mammary syndrome?

Joss, S., Kini, U., Fisher, R., Mundlos, S., Prescott, K., Newbury-Ecob, R., et al. (2011). The face of Ulnar Mammary syndrome? Eur J Med Genet, 54(3), 301-5. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/21199695 http://pdn.sciencedirect.com/science?_ob=MiamiImageURL&_cid=273314&_user=28761&_pii=S1769721210001576&_check=y&_origin=article&_zone=toolbar&_coverDate=30-Jun-2011&view=c&originContentFamily=serial&wchp=dGLzVlB-zSkzk&md5=4d7a7887d6b852680c6bc09c72cd7d90/1-s2.0-S1769721210001576-main.pdf.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7850-B Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7851-9
Genre: Journal Article

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Joss, S., Author
Kini, U., Author
Fisher, R., Author
Mundlos, S.1, Author              
Prescott, K., Author
Newbury-Ecob, R., Author
Tolmie, J., Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: Abnormalities, Multiple/genetics/*pathology; Adult; Breast Diseases/*pathology; Child; Child, Preschool; Face/*abnormalities; Family Health; Female; Fingers/abnormalities; Humans; Infant; Male; Middle Aged; Mutation; Pedigree; Syndrome; T-Box Domain Proteins/genetics; Ulna/*abnormalities; Young Adult
 Abstract: Ulnar Mammary syndrome (UMS) is an autosomal disorder caused by haploinsufficiency of the TBX3 gene. There is marked intrafamilial variation in expression of the syndrome. We present one three generation family in which the proband has absence of the right ulna and third, fourth and fifth rays in her right hand. Her mother and maternal grandmother have more subtle anomalies while all have a similar facial appearance with a broad nasal tip, a broad jaw, a prominent chin and a tongue frenulum. They have a single base pair insertion (c. 992dup) in TBX3. We compare faces from the handful of published UMS patients which include photographs, this family and four other cases with TBX3 mutations. All have similarities in appearance which we suggest could alert clinicians to the possibility of a TBX3 mutation if individuals present with more subtle features of UMS such as postaxial polydactyly, isolated 5th finger anomalies, delayed puberty in males, breast hypoplasia or short stature with or without growth hormone deficiency.

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Title: Eur J Med Genet
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 54 (3) Sequence Number: - Start / End Page: 301 - 5 Identifier: ISSN: 1878-0849 (Electronic) 1769-7212 (Linking)