In:
Pediatric and Developmental Pathology, SAGE Publications, Vol. 10, No. 2 ( 2007-03), p. 142-148
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-3 β-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.
Type of Medium:
Online Resource
ISSN:
1093-5266
,
1615-5742
DOI:
10.2350/06-06-0111.1
Language:
English
Publisher:
SAGE Publications
Publication Date:
2007
detail.hit.zdb_id:
1480654-X
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