Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs
Authors:
- 15 December 1991
- journal article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 41 (4) , 475-477
Abstract
We report on 2 sibs with a similar MCA pattern consisting of generalized lymphedema, cervical lymphocele, shortness of limbs, bowed long bones, and multicystic kidneys with fibrotic liver or pancreas. To our knowledge, this is the second observation of such a combination of defects in sibs, and it confirms the existence of the syndrome reported by Cumming et al. [1986] and its autosomal recessive inheritance.Keywords
This publication has 3 references indexed in Scilit:
- Clinical/Epidemiological analysis of malformationsAmerican Journal of Medical Genetics, 1990
- Campomelia, cervical lymphocele, polycystic dysplasia, short gut, polyspleniaAmerican Journal of Medical Genetics, 1986
- Congenital bowing of the long bonesEuropean Journal of Pediatrics, 1980