We have detailed our experiences on 6 cases of neonatal lethal shore-limbed dwarfism and reviewed the articles. They include, achondrogenesis, thanatophoric dysplasia, asphysiating thoracic dysplasia, osteogenesis imperfenta confenita, and hypoph...
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다국어 초록 (Multilingual Abstract)
We have detailed our experiences on 6 cases of neonatal lethal shore-limbed dwarfism and reviewed the articles. They include, achondrogenesis, thanatophoric dysplasia, asphysiating thoracic dysplasia, osteogenesis imperfenta confenita, and hypoph...
We have detailed our experiences on 6 cases of neonatal lethal shore-limbed dwarfism and reviewed the articles. They include, achondrogenesis, thanatophoric dysplasia, asphysiating thoracic dysplasia, osteogenesis imperfenta confenita, and hypophospatasia lethalis. Five babies were born alive but died soon after birth and one was a stillbirth. The main cause of failure to thrive was respiratory insufficiency. Each case was having quite characteristic radiologic findings. even if the general appearances were similar to the achondroplasts clinically. Precise diagnosis is very important for genetic counselling of the parents and alarm to them the possibility of bone dysplasias to the next offsprings. For this purpose, the radiologists play major role for the correct diagnosis. We stress that when the baby is born with short-limbed dwarfism, whole body radiogram should be taken including lateral view and postmortem radiogram is also very precious.
송과체외에 발생한 두개내 배아세포종의 뇌전전산화단층촬영