A syndrome of disproportionate dwarfism, short spine, brevicollis, barrel chest, pectus carinatum, genu valgum, flat face, myopia, malar hypoplasia, kyphoscoliosis, and limited joint mobility.
The main characteristics of this syndrome are disproportionate dwarfism, short spine, brevicollis, barrel chest, pectus carinatum, genu valgum, flat face, myopia, malar hypoplasia, kyphoscoliosis, and limited joint mobility. May be associated with a long list of other symptoms. Inheritance is autosomal dominant with variability of expression.
- J. W. Spranger, H-R. Wiedemann:
Dysplasia spondyloepiphysaria congenita.
Helvetica paediatrica acta, Basel, 1966, 21: 598.
Lancet, London, 1966, 2: 642.
- J. W. Spranger, L. O. Langer, Jr:
Spondyloepiphyseal dysplasia congenita.
Radiology, Easton, Pennsylvania, 1970, 94: 313-322.
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