Cutis aplasia as a feature of Kabuki syndrome.
This case report describes a child with the features of Kabuki syndrome, but with the additional feature of scalp cutis aplasia, which has not been previously described in this syndrome.
Canham
Natalie L E
NLE
Clinical Genetics Unit, Great Ormond Street Hospital, London, UK.
D000015:Abnormalities, Multiple / Q000473:pathology*; D004423:Ear / Q000002:abnormalities; D004476:Ectodermal Dysplasia / Q000473:pathology*; D005138:Eyebrows / Q000002:abnormalities*; D005143:Eyelids / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome