Background: Achondrogenesis type II is a lethal form of osteochondrodysplasia characterized by short trunk, disproportionately large head, prominent forehead, micrognathia, extreme micromelia, anasarca, large abdomen ...Background: Achondrogenesis type II is a lethal form of osteochondrodysplasia characterized by short trunk, disproportionately large head, prominent forehead, micrognathia, extreme micromelia, anasarca, large abdomen and poor ossification of the bones. The children with achondrogenesis are usually born premature, or die in the neonatal period mostly from respiratory failure. We report the case of a live term newborn infant with achondrogenesis type II who died shortly after birth. Methods: We report a case of achondrogenesis type II in a live male newborn. Results: We report the case of a term male infant delivered to a 24-year-old woman with a chondrogenesis type II confirmed radiologically but died at age 5 days. Conclusion: Whenever a skeletal dysplasia in a fetal dwarfism is suspected, a proper work-up plan should be done to evaluate family history. A clinical, radiographic and histopathologic examination, should be done and confirmed by genetic study. Following evidence-based diagnosis, patients could be offered termination of pregnancy after counseling.展开更多
文摘Background: Achondrogenesis type II is a lethal form of osteochondrodysplasia characterized by short trunk, disproportionately large head, prominent forehead, micrognathia, extreme micromelia, anasarca, large abdomen and poor ossification of the bones. The children with achondrogenesis are usually born premature, or die in the neonatal period mostly from respiratory failure. We report the case of a live term newborn infant with achondrogenesis type II who died shortly after birth. Methods: We report a case of achondrogenesis type II in a live male newborn. Results: We report the case of a term male infant delivered to a 24-year-old woman with a chondrogenesis type II confirmed radiologically but died at age 5 days. Conclusion: Whenever a skeletal dysplasia in a fetal dwarfism is suspected, a proper work-up plan should be done to evaluate family history. A clinical, radiographic and histopathologic examination, should be done and confirmed by genetic study. Following evidence-based diagnosis, patients could be offered termination of pregnancy after counseling.
基金Research supported bythe National Natural Science Foundation of China(10971180)the Xuzhou Normal University 2010 Graduate Programs of Research and Innovation Plan(2010YLB020)
