A 2-year-old has turribrachycephaly from premature fusion of both coronal sutures, midface hypoplasia, proptosis, downslanting palpebral fissures, and complete fusion of the second, third, and fourth digits of both hands giving mitten-like hands. Which gene is implicated?

• A FGFR3
• B TCOF1
• C TWIST1
• D FGFR2 ✓

Explanation

Apert syndrome is an autosomal dominant craniosynostosis syndrome caused by mutations in FGFR2, characterized by bicoronal synostosis with a tall skull, midface hypoplasia, and complex syndactyly of the hands and feet, which separates it from Crouzon syndrome, where the same gene is involved but limbs are entirely normal. FGFR3 mutations cause achondroplasia and thanatophoric dysplasia. TCOF1 causes Treacher Collins mandibulofacial dysostosis without craniosynostosis.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.