Abstract
Campomelic dysplasia (CD) is a rare autosomal dominant skeletal malformation with or without sex reversal. About 10% of cases that present with milder skeletal features are referred to as acampomelic campomelic dysplasia (ACD). CD and ACD are caused by mutations in SOX9. We report a patient of homozygous SOX9 deletion with minimal skeletal anomaly and female external genitalia in the presence of a male karyotype. The mechanisms explaining the homozygous deletion include a de novo mutation followed by gene conversion, uniparental disomy, or somatic crossing over. Our report highlights the possibility of ACD in XY sex-reversed patients with minimal skeletal presentation.
Original language | English |
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Pages (from-to) | 908-911 |
Number of pages | 4 |
Journal | Urology |
Volume | 79 |
Issue number | 4 |
DOIs | |
Publication status | Published - 2012 Apr 1 |
All Science Journal Classification (ASJC) codes
- Urology