GAPO syndrome: a report of two siblings and a review of literature.
Growth retardation, alopecia, pseudoanodontia, optic atrophy (GAPO) syndrome is a rare autosomal recessive disorder. The molecular nature of the disease is not fully understood and is considered to be one of the ectodermal dysplasia defects. In this report, we describe clinical, histologic, and ultrastructural features in two siblings born to consanguineous parents with a brief review of the literature.
Nanda
Arti
A
As'ad Al-Hamad Dermatology Center, Al-Sabah Hospital, Kuwait. artinanda@hotmail.com
Al-Ateeqi
Wafa A
WA
Al-Khawari
Mona A
MA
Alsaleh
Qasem A
QA
Anim
Jeoram T
JT
D000505:Alopecia / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D000848:Anodontia / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004476:Ectodermal Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D005183:Failure to Thrive / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009896:Optic Atrophy / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D011859:Radiography; D035781:Siblings; D013577:Syndrome