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.
As'ad Al-Hamad Dermatology Center, Al-Sabah Hospital, Kuwait. artinanda@hotmail.com
Arti
A
Nanda
Wafa A
WA
Al-Ateeqi
Mona A
MA
Al-Khawari
Qasem A
QA
Alsaleh
Jeoram T
JT
Anim
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