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-3β-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.
Original language | English (US) |
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Pages (from-to) | 142-148 |
Number of pages | 7 |
Journal | Pediatric and Developmental Pathology |
Volume | 10 |
Issue number | 2 |
DOIs | |
State | Published - Mar 2007 |
Keywords
- 3β-hydroxysteroid Δ
- Conradi-Hunermann-Happle syndrome
- Emopamil-binding protein
- X-linked dominant chondrodysplasia punctata
- Δ-isomerase
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Pathology and Forensic Medicine