Schöpf-Schulz-Passarge syndrome with an unusual pattern of inheritance

Autor: W J, Craigen, M L, Levy, R A, Lewis
Rok vydání: 1997
Předmět:
Zdroj: American journal of medical genetics. 71(2)
ISSN: 0148-7299
Popis: Schöpf-Schulz-Passarge syndrome is a rare form of ectodermal dysplasia comprising hypotrichosis, hypodontia, unusual eyelid cysts, palmar-plantar keratosis, and nail dystrophy. To date, ten cases have been reported; all except one are compatible with autosomal recessive inheritance. We report on a family in which three full sibs and one half-sib have Schopf-Schulz-Passarge syndrome, yet there is no other evidence of dominant transmission in prior or subsequent generations. Possible explanations are discussed.
Databáze: OpenAIRE