Publication:
Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings

Placeholder

School / College / Institute

Organizational Unit
GRADUATE SCHOOL OF HEALTH SCIENCES
Upper Org Unit
Organizational Unit
Organizational Unit
SCHOOL OF MEDICINE
Upper Org Unit

Program

KU Authors

Co-Authors

Demirkesen, Cuyan

Publication Date

Language

Embargo Status

Journal Title

Journal ISSN

Volume Title

Alternative Title

Abstract

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.

Source

Publisher

Wiley

Subject

Genetics, Heredity

Citation

Has Part

Source

American Journal of Medical Genetics Part A

Book Series Title

Edition

DOI

10.1002/ajmg.a.60686

item.page.datauri

Link

Rights

Copyrights Note

Endorsement

Review

Supplemented By

Referenced By

0

Views

0

Downloads

View PlumX Details