- Lethal Neonatal Short-limbed Dwarfism
- Lethal Neonatal Short-limbed Dwarfism
- ㆍ 저자명
- 김옥화
- ㆍ 간행물명
- 대한방사선의학회지
- ㆍ 권/호정보
- 1986년|22권 1호|pp.151-159 (9 pages)
- ㆍ 발행정보
- 대한영상의학회
- ㆍ 파일정보
- 정기간행물|ENG| PDF텍스트
- ㆍ 주제분야
- 기타
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.