FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases.

Fibroblast Growth Factor Receptor 3 (FGFR3) related skeletal dysplasias are caused by mutations in the FGFR3 gene that result in increased activation of the receptors causing alterations in the process of endochondral ossification in all long bones, and include achondroplasia, hypochondroplasia, thanatophoric dysplasia, and SADDAN. Reports of prenatal diagnosis of FGFR3 related skeletal dysplasias are not rare; however, the correlation between 2nd trimester ultrasonographic findings and underlying molecular defect in these cases is relatively poor. There is a need for specific ultrasound (U/S) predictors than can distinguish lethal from non-lethal cases and aid an earlier prenatal diagnosis.

Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association.

Objective: We report an atypical case of a fetus presenting with a combined achondroplasia and multiple craniosynostosis phenotype.

Methods: Sonographic monitoring in conjunction with molecular genetic analysis was performed in a 32-gestational weeks fetus.

Results: Sonographic findings were consistent with a diagnosis of achondroplasia associated with multiple-suture synostosis.