Microphthalmia with linear skin defects syndrome.

Autores de IIS La Fe

• Ana Esther Garcia Rabasco

  Autor

• Blanca De Unamuno Bustos

  Autor

• Francisco Martinez Soriano

  Autor

Participantes ajenos a IIS La Fe

• Febrer-Bosch I
• Alegre-de-Miquel V

Grupos

• Dermatología y Regeneración Tisular

Abstract

Microphthalmia with linear skin defects (MLS) or microcornea, dermal aplasia and sclerocornea (MIDAS) syndrome is a rare X-linked-dominant disorder. We present a patient with agenesis of corpus callosum, ocular abnormalities, and multiple skin defects. The cytogenetic studies of the MLS critical region (Xp22.2) were normal, but a skewed X-chromosome inactivation pattern (85:15) was observed.

Keywords

• MLS SYNDROME; SCLEROCORNEA