Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type.
We report two sibs with typical clinical and radiological features of spondylo-meta-epiphyseal dysplasia, short limb abnormal calcification type. In both, the degree of calcification is more extensive than in the previously reported cases and involved all the epiphyses, ligaments and chondral tissues. Intelligence is normal in both children and the eldest is 8 years old with no complications. The literature is reviewed.
al-Gazali
L I
LI
Department of Paediatrics, Faculty of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.
Bakalinova
D
D
Sztriha
L
L
D000328:Adult; D001132:Arm / Q000002:abnormalities*; D002114:Calcinosis / Q000235:genetics* / Q000503:physiopathology; D005500:Follow-Up Studies; D006128:Growth; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007360:Intelligence; D007866:Leg / Q000002:abnormalities*; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000503:physiopathology