Background: Kenny-Caffey syndrome is a rare genetic disorder characterised by short stature, dysmorphic features, and bone abnormalities. A significant number of individuals with Kenny-Caffey syndrome also experience global developmental delay, particularly those with Kenny-Caffey syndrome type 1.

Case Presentation: A 32-year-old lady G4P1L0A2 with a nonconsanguineous marriage visited us with a history of a previous baby who had died at 1.5 years of age. The baby had facial dysmorphism, microcephaly, micrognathia, dental abnormalities, and an electrolyte imbalance of calcium and phosphorus due to hypoparathyroidism. In whole-exome sequencing (WES), a variant of uncertain significance was identified in Exon 17 of the TBCE gene. The couple was also tested and found to be heterozygous for the tested gene mutation.

Intervention/Outcome: In the present pregnancy, the couple was counselled for 25% risk of the condition in the foetus of Kenny-Caffey syndrome. At 12 weeks after the NT NB scan, chorionic villus sampling was performed, and the sample was sent for FISH and targeted mutation analysis of the TBCE gene.

The result was positive for the heterozygous form in the foetus, and the pregnancy was thereafter monitored as a regular antenatal pregnancy. Full term healthy baby was born.