title: New phenotype with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, hyperopia and low cholesterol levels.
abstract: A sporadic, adult male patient with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, and low serum cholesterol levels is presented. Some of the patient's features resemble brachyolmia, Spondylo-epiphyseal dysplasia tarda, Kenny-Caffey and Stickler syndromes. Based on literature review, possible diagnoses are discussed. In conclusion, this patient can have a variant of brachyolmia or Spondylo-epiphyseal dysplasia tarda. However, we cannot exclude that this constellation of clinical features may represent a new syndrome.
authors.affiliation: Dept. of Medical Genetics, Gulhane Military Academy, Etlik, Ankara, Turkey.
authors.forename: A
authors.initials: A
authors.lastname: Koç
authors.forename: M
authors.initials: M
authors.lastname: Bahce
authors.forename: H T
authors.initials: HT
authors.lastname: Sanal
authors.forename: A
authors.initials: A
authors.lastname: Uludag
authors.forename: S
authors.initials: S
authors.lastname: Kozan
authors.forename: D
authors.initials: D
authors.lastname: Torun
authors.forename: B
authors.initials: B
authors.lastname: Ustunsoz
authors.forename: S
authors.initials: S
authors.lastname: Guran
mesh_terms: D000328:Adult; D002784:Cholesterol / Q000097:blood*; D003937:Diagnosis, Differential; D006801:Humans; D006956:Hyperopia / Q000175:diagnosis* / Q000473:pathology; D008297:Male; D008334:Mandible / Q000473:pathology*; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000473:pathology; D010641:Phenotype; D013285:Strabismus / Q000175:diagnosis* / Q000473:pathology; D013577:Syndrome; D014070:Tooth / Q000473:pathology*
chemical_list: D002784:Cholesterol