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Tetraphocomelia with the Waardenburg syndrome and multiple malformations.
Clin Dysmorphol. 2009 Apr; 18(2):112-5.CD

Abstract

A male infant delivered spontaneously at the 29th week of pregnancy had gross tetraphocomelia and features of the Waardenburg syndrome. There were no relevant factors in the pregnancy nor family history. It is possible that microdeletions or contiguous gene defects are involved in the pathogenesis of these malformations.

Authors+Show Affiliations

Division of Pathology, Faculty of Health Sciences, University of Cape Town, Observatory, Cape Town, South Africa.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19188806

Citation

Wu, Hue-Tsi, et al. "Tetraphocomelia With the Waardenburg Syndrome and Multiple Malformations." Clinical Dysmorphology, vol. 18, no. 2, 2009, pp. 112-5.
Wu HT, Wainwright H, Beighton P. Tetraphocomelia with the Waardenburg syndrome and multiple malformations. Clin Dysmorphol. 2009;18(2):112-5.
Wu, H. T., Wainwright, H., & Beighton, P. (2009). Tetraphocomelia with the Waardenburg syndrome and multiple malformations. Clinical Dysmorphology, 18(2), 112-5. https://doi.org/10.1097/MCD.0b013e32832443f7
Wu HT, Wainwright H, Beighton P. Tetraphocomelia With the Waardenburg Syndrome and Multiple Malformations. Clin Dysmorphol. 2009;18(2):112-5. PubMed PMID: 19188806.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Tetraphocomelia with the Waardenburg syndrome and multiple malformations. AU - Wu,Hue-Tsi, AU - Wainwright,Helen, AU - Beighton,Peter, PY - 2009/2/4/entrez PY - 2009/2/4/pubmed PY - 2009/5/29/medline SP - 112 EP - 5 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 18 IS - 2 N2 - A male infant delivered spontaneously at the 29th week of pregnancy had gross tetraphocomelia and features of the Waardenburg syndrome. There were no relevant factors in the pregnancy nor family history. It is possible that microdeletions or contiguous gene defects are involved in the pathogenesis of these malformations. SN - 1473-5717 UR - https://www.unboundmedicine.com/medline/citation/19188806/Tetraphocomelia_with_the_Waardenburg_syndrome_and_multiple_malformations_ L2 - https://doi.org/10.1097/MCD.0b013e32832443f7 DB - PRIME DP - Unbound Medicine ER -