Schöpf-Schulz-Passarge syndrome with an unusual pattern of inheritance.
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.
Craigen
W J
WJ
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. wcraigen@bcm.tmc.edu
Levy
M L
ML
Lewis
R A
RA
D000848:Anodontia / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D004814:Epidermal Cyst / Q000235:genetics; D005143:Eyelids; D005808:Genes, Recessive; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009260:Nail Diseases / Q000235:genetics; D010375:Pedigree; D013577:Syndrome