Dysmorphic Syndromes with Pterygium and Skeletal Malformations
摘要
The presence of pterygium in one or more sites associated with skeletal anomalies is common in some malformative diseases like multiple pterygium syndrome or lethal multiple pterygium syndrome. The skeletal anomalies more frequent are craniosynostosis, arthrogryposis, and microcephaly. It is necessary to perform molecular karyotype.