A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn

Clin Dysmorphol. 2010 Apr;19(2):82-84. doi: 10.1097/MCD.0b013e32833593b7.

Authors

Elisabeth Steichen-Gersdorf¹, Elke Griesmaier, Friederike K Pientka, Dieter Kotzot, Kerstin Kutsche

Affiliation

¹ Department of Pediatrics and Adolescent Medicine Division of Clinical Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria Department of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

PMID: 20179582
DOI: 10.1097/MCD.0b013e32833593b7

No abstract available

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / pathology*
Child, Preschool
Chromosome Deletion
Chromosomes, Human, X / genetics*
Female
Genes, X-Linked*
Humans
Infant
Infant, Newborn
Microphthalmos / complications*
Microphthalmos / genetics*
Microphthalmos / pathology
Pregnancy
Skin Abnormalities / complications*