Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy.
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.
Sousa
Sérgio B
SB
Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.
Russell-Eggitt
Isabelle
I
Hall
Christine
C
Hall
Bryan D
BD
Hennekam
Raoul C M
RC
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