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Dermochondrocorneal dystrophy (Francois syndrome) in a Mexican patient and literature review
Author(s) -
HidalgoBravo Alberto,
AcostaNieto Maria L.,
NormendezMartinez Monica I.,
RodriguezGonzalez Nubia F.,
PazGomez Francisco,
ValdesFlores Margarita,
KramisHollands Mirelle
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37423
Subject(s) - dystrophy , disease , inheritance (genetic algorithm) , multidisciplinary approach , presentation (obstetrics) , pediatrics , medicine , multidisciplinary team , rare disease , dermatology , pathology , surgery , gene , genetics , biology , nursing , social science , sociology
Dermochondrocorneal Dystrophy (OMIM 221800) is a very rare disease first described by Francois in 1949. It is characterized by the appearance of skin nodules, osteochondral deformities, and corneal opacities during childhood. Only a few cases have been reported. There is uncertainty about the inheritance pattern and no gene or genes have been associated to this disease. We report a patient from Mexican mestizo origin with the classic manifestations of Dermochondrocorneal Dystrophy. We perform a multidisciplinary assessment in order to contribute to the knowledge of the clinical presentation of this uncommon condition. Among the few documented patients, this is the third patient of Mexican ancestry reported with this syndrome. © 2015 Wiley Periodicals, Inc.