Metaphyseal chondrodysplasia: Type Schmid

Metaphyseal

Chondrodysplasia

: Type Schmid

By Hooshang Taybi

Metaphyseal dysostosis type Schmid’s metaphyseal dysostosis Heredity:

Schmid,

Autosomal dominant with variable expression; usually milder in females

Manifestations:

(I) Pain in the lower limbs (2) Bowed legs, waddling gait (3) Enlarged epiphyseal ends of the bones and joints

Chief Roentgen Manifestations:

(1) Increase in the density of the provisional zone of calcification (2) Scalloping or irregularity of the metaphyses (3) Coxa vara, tibia1 bowing

Chief Clinical

Other

Important

Details: Variants:

Differential

168

(1) Inability to fully extend the fingers (2) Flaring of lower ribs None

Diagnosis:

Rickets (especially vitamin D resistant), other types of metaphyseal chondrodysplasia

References:

1. Kozlowski K: Am J Roentgen01 91:602, 1964 2. Rosenbloom AL, Smith DW: J Pediatr 66:857,1965 3. Schmid F: Monatsschr Kinderheilk 97:393, 1949 4. Taybi H, Mitchell AD, Friedman GD: Radiology 93 :563, 1969

Seminars

in Roentgenology,

Vol. VIII, No. 2 (April),

1973

MAJOR SYNDROMES

169

Fig. A. Bilateral coxa vara. Figs. 8, C, and D. Increase in the density of the provisional zone of calcification and unevenness of metaphyseal ossification.