A disturbance evident at birth and progressing during infancy. Characterized in childhood by dwarfism with normal body length and disproportionately long trunk, especially thorax, and short limbs, narrow chest, prominent joints, limited joint movement. A linear fold that overlies the coccyx may extend as a taillike process. Waddling gait. Progressive disability in adolescence. Few survive beyond adulthood.
Aetiology unknown. Both autosomal recessive and autosomal dominant forms of transmission have been reported.
- P. Maroteaux, J. Spranger, H. R. Wiedemann:
Der metatrophische Zwergwuchs.
Archiv für Kinderheilkunde, 1966, 173: 211-226.
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