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(swiss cheese cartilage syndrome)
3 results
  • A new skeletal dysplasia: clinical, radiologic, and pathologic findings. [Case Reports]
    J Pediatr 1986; 109(4):642-8Burton BK, Sumner T, … Weaver RG
  • Two siblings, one male and one female, were noted to have a distinct skeletal dysplasia. The clinical and radiographic features resemble those observed in Kniest dysplasia and Rolland-Desbuquois syndrome, but important differences were noted. Specifically, these two patients have microstomia, "pursed" lips, and ectopia lentis, and their radiographs reveal no coronal clefts. Chondro-osseous featur…
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