From Dysmorphic Clues to Diagnosis: A Neonatal Case of Type 1 Apert Syndrome in a Resource-Limited Setting

Mamta Nikhurpa, Amit Kumar Singh

Abstract

Apert syndrome is a rare congenital craniosynostosis disorder characterized by craniofacial dysmorphism and syndactyly. Prenatal diagnosis is common in developed areas that have access to advanced imaging and genetic evaluation; however, in resource-limited areas, lack of access to advanced imaging can delay the diagnosis of Apert syndrome.

We report the case of a 9-hour male neonate, who was born in a peripheral health center and was referred to our center, for respiratory distress and multiple congenital anomalies. He was born to a nonconsanguineous couple, in a remote hilly region (Uttarakhand, India), with no prenatal scans or screening. On examination, the neonate had features of turribrachycephaly, ocular proptosis, midfacial hypoplasia, and symmetrical syndactyly of his fingers and toes (mitten hand and sock foot). Choanal atresia and cleft palate were also present. Despite financial constraints precluding genetic confirmation or neuroimaging, bedside morphologic assessment enabled diagnosis. The neonate was taken home against medical advice before further intervention.

This case emphasizes the diagnostic value of meticulous clinical examination in detecting syndromic presentations, particularly when diagnostic technology is unavailable. It also highlights health care disparities affecting congenital anomaly management in resourced-limited regions.