A case of acrocephalosyndactyly with low imperforate anus.
The authors report a case of a female acrocephalosyndactyly with imperforate anus without fistula, which is rare in girls. Acrocephalosyndactyly is characterized by premature closure of the sutures (craniosynostosis) and fusion or webbing of hands and feet (syndactyly). The most general types of the syndrome are the Apert syndrome and the Pfeiffer syndrome. They usually have some fibroblast growth factor receptor (FGFR) gene mutations, so that acrocephalosyndactyly is thought to be involved in "FGFR-related craniosynostosis." To the authors' knowledge, only 4 cases of anorectal anomaly in acrocephalosyndactyly have been reported in the world. The relationship between anorectal anomaly and the FGFR gene is not clear now, but might be clarified in the future.
Kodaka
Tetsuro
T
Department of Pediatric Surgery, Faculty of Medicine, University of Tokyo, Tokyo, Japan.
Kanamori
Yutaka
Y
Sugiyama
Masahiko
M
Hashizume
Kohei
K
D000168:Acrocephalosyndactylia / Q000145:classification / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*
D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2