Anorectal anomaly in Pfeiffer syndrome.
A Japanese girl with Pfeiffer syndrome is described. She has clinical and radiological manifestations typical of the syndrome. In addition, she had an imperforate anus not described previously in the syndrome. This seems to expand the phenotype associated with Pfeiffer syndrome or represent a new acrocephalosyndactyly syndrome.
Ohashi
H
H
Division of Medical Genetics, Saitama Children's Medical Center, Japan.
Nishimoto
H
H
Nishimura
J
J
Sato
M
M
Imaizumi
S
S
Aihara
T
T
Fukushima
Y
Y
D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging / Q000473:pathology*; D001006:Anus, Imperforate / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005260:Female; D005528:Foot / Q000000981:diagnostic imaging; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging; D013577:Syndrome