Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy.
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.
Isidor
Bertrand
B
Clinical Genetic Department, Nantes University Hospital, Nantes Cedex, France. bertrand.isidor@chu-nantes.fr
Baron
Sabine
S
Khau van Kien
Philippe
P
Bertrand
Anne-Marie
AM
David
Albert
A
Le Merrer
Martine
M
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