Lethal neonatal short-limbed dwarfism
10.3348/jkrs.1986.22.1.151
- Author:
Ok Hwa KIM
;
Chung Ik YIM
;
Yong Whee BAHK
- Publication Type:Original Article
- MeSH:
Diagnosis;
Dwarfism;
Extremities;
Failure to Thrive;
Humans;
Hypophosphatasia;
Parents;
Parturition;
Respiratory Insufficiency;
Stillbirth;
Thanatophoric Dysplasia
- From:Journal of the Korean Radiological Society
1986;22(1):151-159
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
We have detailed our experiences on 6 cases of neonatal lethal short- limbed dwarfism and reviewed thearticles. They include, achondrogenesis, thanatophoric dysplasia, asphsiating thoracic dysplasia, osteogenesisimperfecta congenita, and hypophosphatasia lethalis. Five babies were born alive but died soon after birth and onewas a stillbirth. The main cause of failure to thrive was respiratory insufficiency. Each case was having quitecharacteristic radiologic findings, even if the genearl appearances were similar to the achondroplasts clinically.Precise diagnosis is very important for genetic counselling of the parents and alarm to them the possibility ofbone dysplasias to the next offsprings. For this purpose, the radiologists play major role for the correctdiagnosis. We stress that when the baby is born with short-limbed dwarfism, whole body radiogram should be takenincluding lateral view and postmortem radiogram is also very precious.
