title: Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy.
abstract: There are several entities that combine a skeletal dysplasia with a retinal dystrophy. Recently, another possibly autosomal recessive entity was added to this group characterized by a specific spondylometaphyseal dysplasia and a cone-rod dystrophy, without other significant impairments. The entity was named SMD-CRD. We further delineate this disorder by reporting on a 16-year-old boy and a pair of twins with this entity. Possible etiologies are discussed. The boy showed low alpha-neuraminidase activity levels in fibroblasts, but normal levels in leucocytes. The meaning of this finding remains as yet unknown.
authors.affiliation: Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.
authors.forename: Sérgio B
authors.initials: SB
authors.lastname: Sousa
authors.forename: Isabelle
authors.initials: I
authors.lastname: Russell-Eggitt
authors.forename: Christine
authors.initials: C
authors.lastname: Hall
authors.forename: Bryan D
authors.initials: BD
authors.lastname: Hall
authors.forename: Raoul C M
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D005260:Female; D005654:Fundus Oculi; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007866:Leg / Q000000981:diagnostic imaging; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications* / Q000000981:diagnostic imaging; D011859:Radiography; D012174:Retinitis Pigmentosa / Q000150:complications*; D013131:Spine / Q000000981:diagnostic imaging