Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa

Int J Dermatol. 2020 Jul;59(7):864-866. doi: 10.1111/ijd.14905. Epub 2020 May 9.

Authors

Antoinette Chateau¹, Kerstin Kutsche², Sigrid Fuchs², Frederike Harms², Carl-Heinz Kruse³, Anisa Mosam¹

Affiliations

¹ Department of Dermatology, Greys Hospital, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa.
² Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
³ Department of Ophthalmology, Greys Hospital, University of KwaZulu-Natal, Durban, South Africa.

PMID: 32386085
DOI: 10.1111/ijd.14905

No abstract available

Publication types

Case Reports

MeSH terms

Africa
Genetic Diseases, X-Linked*
Humans
Microphthalmos
Siblings
Skin Abnormalities* / diagnosis
Skin Abnormalities* / genetics

Supplementary concepts

Microphthalmia, syndromic 7

Grants and funding

KU 1240/6-2/Deutsche Forschungsgemeinschaft