β Scribed by Tyler, K.; Sarioglu, N.; Kunze, J.
No coin nor oath required. For personal study only.
We describe a family with two marriages of first cousins and a total of five children with opsismodysplasia. The diagnosis was based on clinical, radiological, and immunhistochemical findings. Helpful to the diagnosis was the testing with type I collagen antibodies, showing abnormally high levels in the hypertrophic area of growth cartilage. This observation supports the hypothesis of autosomal recessive transmission of opsismodysplasia. Am. J. Med. Genet. 83:47-52, 1999.
π SIMILAR VOLUMES
to that first described by Cumming et al. [
## Recessive Weaver-Like Syndrome To the Editor: We recently saw a 2 1/2-year-old boy who was referred for assessment of developmental retardation and facial anomalies. The clinical findings resembled those of 2 sibs reported by Teebi et al. [1989], who suggested the diagnosis of a Weaver syndrome
The paper by prompted us to report the case of a family in which three children from a consanguineous marriage were affected by Thomas syndrome (Potter sequence with cleft lip/palate and cardiac anomalies). The parents were an Egyptian consanguineous couple who had had 3 pregnancies. The first pre
Heterozygous individuals carrying a "paradominant" mutation, as a rule, are phenotypically normal. Therefore, the mutation can be transmitted unperceived through many generations. The trait becomes manifest when a somatic mutation occurs during embryogenesis giving rise to loss of heterozygosity and
## To the Editor: Chordomas are rare, clinically malignant tumors derived from notochordal remnants which occur along the length of the spinal axis predominantly in the sphenooccipital, vertebral, and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extensio