A newly recognized autosomal dominant ectodermal dysplasia syndrome: the odonto-tricho-ungual-digital-palmar syndrome.
We report on two brothers, their mother, and 18 other relatives of five generations presenting an apparent newly recognized syndrome involving natal teeth, trichodystrophy, prominent interdigital folds, simian-like hands with transverse palmar creases, and ungual digital dystrophy, inherited as an autosomal dominant trait. In addition, the patients had hypoplasia of the first metacarpal and metatarsal bones and distal phalanges of the toes.
Mendoza
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HR
Pediatric Medical Clinic, Robert Reid Cabral Children Hospital, Santo Domingo, Dominican Republic.
Valiente
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MD
D000328:Adult; D002648:Child; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007621:Karyotyping; D008297:Male; D009264:Nails, Malformed; D009306:Natal Teeth; D010375:Pedigree; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome