Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs.
We describe a brother and sister with Hirschsprung disease, hypotonia, and ptosis. Their condition resembles that in 2 sibs reported by Goldberg and Shprintzen. We conclude that the clinical characteristics in 8 reported cases with similar clinical manifestations represent a distinct autosomal recessive syndrome, Goldberg-Shprintzen syndrome.
Yomo
A
A
Department of Pediatrics, Okinawa Prefectural Nanbu Hospital, Japan.
Taira
T
T
Kondo
I
I
D001763:Blepharoptosis / Q000235:genetics*; D002675:Child, Preschool; D003878:Dermatoglyphics; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D013577:Syndrome