| Ulnar Mammary syndrome and TBX3: expanding the phenotype. | |
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MedLine Citation:
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PMID: 19938096 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present a patient with features of Ulnar Mammary syndrome (UMS) consisting of bilateral ulnar defects, inverted nipples, short stature with associated growth hormone deficiency, and cryptorchidism. Our patient also had a hypoplastic anterior pituitary and an ectopic posterior pituitary gland, ventricular septal defect (VSD), and cardiac conduction defects consistent with Wolff-Parkinson-White (WPW) syndrome. Although TBX3 is known to be expressed in both the developing heart and the pituitary gland, conduction defects and anatomical pituitary abnormalities have not been previously described in UMS. This may, in part, be due to the fact that these features are not actively sought in individuals with UMS. Because these new findings have important clinical implications, we suggest that clinicians caring for individuals with UMS offer brain imaging, growth hormone testing, and cardiac arrhythmia screening. The diagnosis of UMS was confirmed on mutation analysis of TBX3. The mother of the propositus was also found to carry the same mutation, although she did not show the classical features of UMS. Therefore, our report also supports the variable expressivity of UMS within the same family. |
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Authors:
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Helen Linden; Rosy Williams; Janet King; Edward Blair; Usha Kini |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Dec |
Date Detail:
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Created Date: 2009-11-30 Completed Date: 2010-01-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2809-12 Citation Subset: IM |
Affiliation:
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Department of Clinical Genetics, The Churchill Hospital, Oxford, UK. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple Child Child, Preschool Female Humans Infant, Newborn Male Mammary Glands, Human / abnormalities* Phenotype Pregnancy Syndrome T-Box Domain Proteins / genetics* Ulna / abnormalities* |
| Chemical | |
Reg. No./Substance:
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0/T-Box Domain Proteins; 0/TBX3 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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