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Focal dermal hypoplasia without focal dermal hypoplasia.
Am J Med Genet A. 2014 Mar; 164A(3):778-81.AJ

Abstract

Focal dermal hypoplasia (FDH; Goltz-Gorlin syndrome) is an X-linked dominant disorder affecting mainly tissues of ectodermal and mesodermal origin. The phenotype is characterized by hypoplastic linear skin lesions, eye malformations, hair and teeth anomalies, and multiple limbs malformations. The disorder is caused by PORCN mutations. Here we describe a mother and daughter with FDH in whom a c.938T>G in PORCN was detected. Neither of the two had FDH, but otherwise the phenotype was classical. Focal skin hypoplasia is a hallmark of FDH but the present family indicates that FDH should also be considered in absence of this skin manifestation.

Authors+Show Affiliations

Departamento de Genética, Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Mérida, Yucatán, México.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24357603

Citation

Contreras-Capetillo, Silvina N., et al. "Focal Dermal Hypoplasia Without Focal Dermal Hypoplasia." American Journal of Medical Genetics. Part A, vol. 164A, no. 3, 2014, pp. 778-81.
Contreras-Capetillo SN, Lombardi MP, Pinto-Escalante D, et al. Focal dermal hypoplasia without focal dermal hypoplasia. Am J Med Genet A. 2014;164A(3):778-81.
Contreras-Capetillo, S. N., Lombardi, M. P., Pinto-Escalante, D., & Hennekam, R. C. (2014). Focal dermal hypoplasia without focal dermal hypoplasia. American Journal of Medical Genetics. Part A, 164A(3), 778-81. https://doi.org/10.1002/ajmg.a.36341
Contreras-Capetillo SN, et al. Focal Dermal Hypoplasia Without Focal Dermal Hypoplasia. Am J Med Genet A. 2014;164A(3):778-81. PubMed PMID: 24357603.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Focal dermal hypoplasia without focal dermal hypoplasia. AU - Contreras-Capetillo,Silvina N, AU - Lombardi,Maria Paola, AU - Pinto-Escalante,Doris, AU - Hennekam,Raoul C, Y1 - 2013/12/19/ PY - 2013/05/14/received PY - 2013/10/06/accepted PY - 2013/12/21/entrez PY - 2013/12/21/pubmed PY - 2014/11/5/medline KW - Goltz-Gorlin syndrome KW - PORCN KW - focal dermal hypoplasia KW - variability SP - 778 EP - 81 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 164A IS - 3 N2 - Focal dermal hypoplasia (FDH; Goltz-Gorlin syndrome) is an X-linked dominant disorder affecting mainly tissues of ectodermal and mesodermal origin. The phenotype is characterized by hypoplastic linear skin lesions, eye malformations, hair and teeth anomalies, and multiple limbs malformations. The disorder is caused by PORCN mutations. Here we describe a mother and daughter with FDH in whom a c.938T>G in PORCN was detected. Neither of the two had FDH, but otherwise the phenotype was classical. Focal skin hypoplasia is a hallmark of FDH but the present family indicates that FDH should also be considered in absence of this skin manifestation. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/24357603/Focal_dermal_hypoplasia_without_focal_dermal_hypoplasia_ L2 - https://doi.org/10.1002/ajmg.a.36341 DB - PRIME DP - Unbound Medicine ER -