Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome.
Deletion 22q11.2 syndrome is a well-known contiguous gene syndrome, for which the list of findings is extensive and varies from patient to patient. We encountered a unique patient who had a familial 3-Mb deletion 22q11.2 associated with trigonocephaly derived from craniosynostosis of the metopic suture. Almost all the symptoms of the patient, including polymicrogyria, microcephaly, facial abnormalities, internal anomalies, seizures, and mental retardation, were compatible with deletion 22q11.2 syndrome, except for synostosis of the metopic suture. This is the first report of a relationship between deletion 22q11.2 syndrome and trigonocephaly. Craniosynostosis of the metopic suture might be a minor complication of deletion 22q11.2, although coincidental occurrence cannot be ruled out.
Yamamoto
Toshiyuki
T
Department of Medical Genetics, Kanagawa Children's Medical Center (KCMC), Yokohama, Japan. tyamamoto-jes@umin.ac.jp
Sameshima
Kiyoko
K
Sekido
Ken-ichi
K
Aida
Noriko
N
Matsumoto
Naomichi
N
Naritomi
Kenji
K
Kurosawa
Kenji
K
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D019465:Craniofacial Abnormalities; D020732:Cytogenetic Analysis; D040941:Heredity / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000150:complications; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed