Familial blomstrand chondrodysplasia with advanced skeletal maturation: Further delineation
- 22 August 1997
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 71 (3) , 283-288
- https://doi.org/10.1002/(sici)1096-8628(19970822)71:3<283::aid-ajmg7>3.0.co;2-v
Abstract
We report on two sibs with a rare lethal chondrodysplasia born to a non-consanguineous couple. The hallmarks of this affection, also called Blomstrand chondrodysplasia, are short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and a remarkable advance in skeletal maturation. We describe the radiologic and pathologic manifestations in these two cases. This recurrence affecting a male and a female fetus, born to the same couple, suggests autosomal recessive inheritance. Am. J. Med. Genet. 71:283–288, 1997.Keywords
This publication has 3 references indexed in Scilit:
- Blomstrand lethal osteochondrodysplasiaAmerican Journal of Medical Genetics, 1996
- A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?Journal of Medical Genetics, 1993
- A case of lethal congenital dwarfism with accelerated skeletal maturationPediatric Radiology, 1985