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Am J Med Genet. 1996 Aug 23;64(3):493-6.

Chondrodysplasia punctata, humero-metacarpal type: a second case.

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Department of Pediatrics, University of Virginia Health Science Center, Charlottesville 22908, USA.


We report on a boy with symmetrical rhizomelic shortness of the upper limbs and punctate epiphyseal calcifications noted at birth. Radiographs documented short and wide humeri, symmetrical brachymetacarpy, coronal clefts of the veretebrae, and punctate calcifications in the spine, sacrum, shoulder, feet, and trachea. Borochowitz [1991] described a similar patient with an apparently new syndrome of chondrodysplasia punctata (CP), distinct from previously described forms. He suggested the term "chondrodysplasia punctata, humero-metacarpal (HM)" type. We present our patient as a second case of this form of CP.

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