title: Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome.
abstract: We describe three affected sibs with Raine syndrome born to a consanguineous Turkish couple. Clinical findings and post-mortem assessment are presented. We have added previously unreported meso and severe telebrachyphalangy and urogenital anomalies to the clinical spectrum. Appositional new bone formation may be mistaken for fractures and callus formation--both prenatally by ultrasound and postnatally in radiographs. Further research is required to detect the underlying metabolic and molecular defects of this autosomal recessive syndrome.
authors.affiliation: Klinik und Poliklinik für Kinderheilkunde--Allgemeine Kinderheilkunde, Westfälische Wilhelms-Universität, Münster, Germany. g.hulskamp@ich.ucl.ac.uk
authors.forename: Georg
authors.initials: G
authors.lastname: Hülskamp
authors.forename: Dagmar
authors.initials: D
authors.lastname: Wieczorek
authors.forename: Harald
authors.initials: H
authors.lastname: Rieder
authors.forename: Frank
authors.initials: F
authors.lastname: Louwen
authors.forename: Isabell
authors.initials: I
authors.lastname: Hörnig-Franz
authors.forename: Christian H
authors.initials: CH
authors.lastname: Rickert
authors.forename: Jürgen
authors.initials: J
authors.lastname: Horst
authors.forename: Erik
authors.initials: E
authors.lastname: Harms
authors.forename: Helga
authors.initials: H
authors.lastname: Rehder
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005192:Family Health; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010026:Osteosclerosis / Q000000981:diagnostic imaging / Q000473:pathology*; D011247:Pregnancy; D011859:Radiography; D035781:Siblings