Spondyloepimetaphyseal dysplasia (SEMD) Shohat type.
Recently a distinct spondyloepimetaphyseal dysplasia (SEMD) was reported in three members of a Jewish family. We present a 3.5-year-old Mexican boy with disproportionate short stature, peculiar face, short neck, small chest, abdominal distension, lumbar lordosis, short limbs, marked genua vara, and joint laxity. Roentgenologic findings include short long bones, wide and flared metaphyses with irregularities, delayed epiphyseal ossification, platyspondyly and morphological changes of vertebral bodies and fibular overgrowth. The striking resemblance of this patient to those previously reported confirms this form of SEMD as a distinct entity. Autosomal recessive inheritance is supported and the designation SEMD Shohat type is proposed.
Figuera
L E
LE
División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, México.
Ramírez-Dueñas
M L
ML
Gallegos-Arreola
M P
MP
Cantú
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D004392:Dwarfism / Q000151:congenital; D005360:Fibula / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D006984:Hypertrophy; D007593:Joint Instability; D007719:Knee Joint / Q000503:physiopathology; D008141:Lordosis / Q000235:genetics; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology