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Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings
Author(s) -
Azakli Hülya,
Akkaya Ayse Deniz,
Aygün Murat Serhat,
Demirkesen Cüyan,
Eraslan Serpil,
Kayserili Hülya
Publication year - 2019
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.60686
Subject(s) - girl , turkish , terminal (telecommunication) , dermatology , medicine , art , anatomy , genetics , biology , computer science , philosophy , linguistics , telecommunications
Terminal osseous dysplasia with pigmentary defects (TODPD; MIM #300244) is an extremely rare, X‐linked dominant, in utero male‐lethal disease, characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibromatosis of childhood. Delayed/abnormal ossification of bones of the hands and feet, joint contractures, and dysmorphic facial features may accompany. A single recurrent mutation (c.5217 G>A) of the FLNA gene which causes cryptic splicing was identified as the cause of the disease. We here present the first TODPD case from Turkey with full‐blown phenotype who exhibit unique additional findings, hypopigmented patch on the lower extremity following Blaschko's lines and smooth muscle hamartoma of the scalp in review of all the previously reported TODPD cases.