| Full text | |
| Author(s): |
Lacarrubba-Flores, Maria Dora Jazmin
;
Silveira, Karina da Costa
;
Silveira, Cynthia
;
Carvalho, Benilton S.
;
Cavalcanti, Denise Pontes
Total Authors: 5
|
| Document type: | Journal article |
| Source: | AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 194, n. 2, p. 9-pg., 2023-10-17. |
| Abstract | |
Mesomelic skeletal dysplasia is a heterogeneous group of skeletal disorders that has grown since the molecular basis of these conditions is in the process of research and discovery. Here, we report a Brazilian family with eight affected members over three generations with a phenotype similar to mesomelic Kantaputra dysplasia. This family presents marked shortening of the upper limbs with hypotrophy of the lower limbs and clubfeet without synostosis. Array-based CNV analysis and exome sequencing of four family members failed to show any region or gene candidate. Interestingly, males were more severely affected than females in this family, suggesting that gender differences could play a role in the phenotypic expressivity of this condition. (AU) | |
| FAPESP's process: | 15/22145-6 - Contribution to the clinical and etiological study of the skeletal dysplasias and dysostosis in Brazil |
| Grantee: | Denise Pontes Cavalcanti |
| Support Opportunities: | Regular Research Grants |