The association of a dysmorphic pelvis, absence of pubic rami, hip dysplasia, and genitourinary anomalies
✍ Scribed by Ravi K. Bashyal; Henrik Malchau; Katherine Nimkin; Lewis B. Holmes
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 535 KB
- Volume
- 94
- Category
- Article
- ISSN
- 1542-0752
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✦ Synopsis
Abstract
BACKGROUND
There have been reports of children who had absence of the pubic rami, hip dysplasia, and genitourinary anomalies.
CASE REPORT
We describe a 44‐year‐old woman with severe hip dysplasia, bilateral chronic congenital hip dislocations, abnormal development of the entire pelvis, and absence of the pubic rami in association with absence of the uterus.
CONCLUSION
We present an individual who has abnormal development of the entire pelvis, including absence of the pubic rami, and genitourinary anomalies. We suggest that this is a rare pattern of associated anomalies confined to a localized region of the body. Potential underlying developmental abnormalities include somatic mutations which affected the mesodermal cells from which the pelvis and mullerian structures develop. Birth Defects Research (Part A) 2012. © 2011 Wiley Periodicals, Inc.