title: Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy.
abstract: This report describes two unrelated boys presenting with short stature, femoral metaphyseal abnormalities, platyspondyly, and retinitis pigmentosa. Patients share similar findings with cases described by Ehara et al. [Ehara et al. (1997); Eur J Pediatr 156:627-630] described as axial spondylometaphyseal dysplasia. The presence of consanguinity in one of our patients further supports an autosomal recessive mode of inheritance of what, we believe, constitutes a separate and distinct entity.
authors.affiliation: Clinical Genetic Department, Nantes University Hospital, Nantes Cedex, France. bertrand.isidor@chu-nantes.fr
authors.forename: Bertrand
authors.initials: B
authors.lastname: Isidor
authors.forename: Sabine
authors.initials: S
authors.lastname: Baron
authors.forename: Philippe
authors.initials: P
authors.lastname: Khau van Kien
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Bertrand
authors.forename: Albert
authors.initials: A
authors.lastname: David
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
mesh_terms: D000293:Adolescent; D002648:Child; D005269:Femur / Q000002:abnormalities*; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome