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  • Title: A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature.
    Author: Rakheja D, Read CP, Hull D, Boriack RL, Timmons CF.
    Journal: Pediatr Dev Pathol; 2007; 10(2):142-8. PubMed ID: 17378690.
    Abstract:
    We recently performed an autopsy on a premature female newborn with rhizomesoacromelic limb shortening of the upper and lower extremities, craniofacial dysmorphism, and chondrodysplasia punctata. A diagnosis of Conradi-Hunermann-Happle syndrome or X-linked dominant chondrodysplasia punctata was made based on elevated cholest-8(9)-ene-3beta-ol in serum and tissues. Molecular analysis of EBP, mutations of which are responsible for this malformation syndrome, revealed a monoallelic missense mutation, c.328 G>A (R110Q). We present this case as an illustration of an unusually severe manifestation of this disorder in a female, with additional unusual features including lack of skin manifestations and apparent bilateral symmetry of the skeletal findings.
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