Abstract
We describe two opposite sexed sibs, the offspring of consanguineous Pakistani parents, with a previously undescribed syndrome. The main features are short ribs with a narrow chest and thoracic dysplasia, mild shortening of the limbs, communicating hydrocephalus, and developmental delay. One sib was diagnosed prenatally by ultrasound at 18 weeks' gestation. The inheritance of the condition is presumed to be autosomal recessive.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bankier A., Danks D. M. Thoracic-pelvic dysostosis: a 'new' autosomal dominant form. J Med Genet. 1983 Aug;20(4):276–279. doi: 10.1136/jmg.20.4.276. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Danks D. M., Haslam R., Mayne V., Kaufmann H. J., Holtzapple P. G. Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period. Arch Dis Child. 1976 Sep;51(9):697–702. doi: 10.1136/adc.51.9.697. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Turkel S. B., Diehl E. J., Richmond J. A. Necropsy findings in neonatal asphyxiating thoracic dystrophy. J Med Genet. 1985 Apr;22(2):112–118. doi: 10.1136/jmg.22.2.112. [DOI] [PMC free article] [PubMed] [Google Scholar]