title: Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases.
abstract: We report on 3 patients (2 sibs and an unrelated adult woman) with scapuloiliac dysostosis (Kosenow syndrome, Pelvis-Shoulder Dysplasia) each of whom has additional abnormalities not previously reported in the literature. The clinical spectrum of this entity is discussed along with possible inheritance patterns.
authors.affiliation: International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center, Los Angeles, California, USA.
authors.forename: A M
authors.initials: AM
authors.lastname: Elliott
authors.forename: E R
authors.initials: ER
authors.lastname: Roeder
authors.forename: D R
authors.initials: DR
authors.lastname: Witt
authors.forename: D L
authors.initials: DL
authors.lastname: Rimoin
authors.forename: R S
authors.initials: RS
authors.lastname: Lachman
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D001344:Autopsy; D004413:Dysostoses / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D005836:Genitalia, Female / Q000002:abnormalities; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D010388:Pelvis / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011859:Radiography; D012540:Scapula / Q000002:abnormalities* / Q000000981:diagnostic imaging; D012782:Shoulder / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome