The babygram is abnormal for narrow sacrosciatic notches, radiolucent band over femoral heads, trident hand (more prominent over the left side), excessive skin folds over rhizomelic segments of long bones indicating mild rhizomelic shortening, decreased vertebral height, failure of progression of interpedicular distance over the lumbar segment, and bony spurs at metaphyses. Calvarium is large relative to the hypoplastic facial bones, but no definite long bone shortening is seen. These findings are compatible with the group of skeletal dysplasia related to FGFR3 (Fibroblast Growth Factor Receptor 3) mutations, in particular, hypochondroplasia or attenuated form of achondroplasia. Genetic study by DNA sequencing on PCR amplified fragments of exons 7, 9, 10, 13, 15 and 19 of the FGFR3 gene detected heterozygous 1138 G → A transition, confirming the diagnosis of achondroplasia.
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