Osteopathia striata with cranial sclerosis.

Authors

  • Mafalda Barbosa Centro de Genética Médica Dr. Jacinto Magalhães, Departamento de Genética, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto.
  • Bram Perdu
  • Virgílio Senra
  • Filipe Macedo
  • Wim Van Hul
  • Margarida Reis-Lima
  • Jorge Pinto-Basto

DOI:

https://doi.org/10.20344/amp.734

Abstract

We report on a female patient who presented failure to thrive, laryngotracheomalacia, conductive deafness and facial dysmorphisms. A skeletal survey revealed thickening of the cranial vault, linear striations in the diametaphyses of all long bones and fan-like striations of the iliac bones. CT scan of the temporal bone showed thickening of the cranial base, sclerotic mastoids, abnormal ossicular fixation and stenosis of the otic foramina. The radiological findings led to the diagnosis of Osteopathia Striata with Cranial Sclerosis. A mutation in WTX gene confirmed the clinical and radiological diagnosis of Osteopathia Striata with Cranial Sclerosis in this patient and allowed proper genetic counseling and providing prenatal diagnosis.

Downloads

Download data is not yet available.

How to Cite

1.
Barbosa M, Perdu B, Senra V, Macedo F, Van Hul W, Reis-Lima M, Pinto-Basto J. Osteopathia striata with cranial sclerosis. Acta Med Port [Internet]. 2010 Dec. 28 [cited 2024 Mar. 28];23(6):1147-50. Available from: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/734

Issue

Section

Arquivo Histórico