Conradi-Hunermann syndrome (chondrodysplasia punctata-2, Happle syndrome)
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Pathology
- ventricular septal defect
- patent ductus arteriosus
- asymmetric limb shortness
- early punctate bone mineralization
- large skin pores
Genetics
X-linked dominant
More general terms
- genetic syndrome (multisystem disorder)
- developmental disorder syndrome (multisystem disorder)
- X-linked disease
References
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038