title: Gorlin-Chaudhry-Moss syndrome revisited: expanding the phenotype.
abstract: Gorlin-Chaudhry-Moss syndrome (OMIM 233500) is a rare congenital malformation syndrome with the cardinal manifestations of craniofacial dysostosis, hypertrichosis, underdeveloped genitalia, ocular, and dental anomalies. Since 1960, only six affected individuals have been reported. We report a 4-year and 6-month-old female patient with this phenotype and review the clinical presentation of all patients known so far. Previously unreported malformations of the extremities, larynx, and nose are also described, expanding the phenotype of this rare syndrome. Array-CGH analysis did not show pathological deletions or duplications.
authors.affiliation: Department of Medical Genetics, Gulhane Military Medical Academy, Ankara, Turkey. ozgurrosti@yahoo.com
authors.forename: Rasim O
authors.initials: RO
authors.lastname: Rosti
authors.forename: Kadri
authors.initials: K
authors.lastname: Karaer
authors.forename: Birsen
authors.initials: B
authors.lastname: Karaman
authors.forename: Deniz
authors.initials: D
authors.lastname: Torun
authors.forename: Sefik
authors.initials: S
authors.lastname: Guran
authors.forename: Muhterem
authors.initials: M
authors.lastname: Bahce
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology* / Q000235:genetics; D002675:Child, Preschool; D002881:Chromosomes, Human, Pair 12; D019465:Craniofacial Abnormalities / Q000209:etiology* / Q000235:genetics; D056915:DNA Copy Number Variations; D004374:Ductus Arteriosus, Patent / Q000209:etiology* / Q000235:genetics; D005260:Female; D006130:Growth Disorders; D006228:Hand Deformities, Congenital / Q000209:etiology; D006801:Humans; D006983:Hypertrichosis / Q000209:etiology* / Q000235:genetics; D007223:Infant; D007830:Larynx / Q000002:abnormalities; D009666:Nose / Q000002:abnormalities; D010641:Phenotype; D011371:Progeria; D014034:Toes / Q000002:abnormalities