Apert syndrome, an unusual clinical condition

Abstract

Introduction: Apert syndrome is a rare clinical entity with X-linked inheritance, leading to craniofacial anomalies and symmetrical syndactyly in hands and feet, with an incidence of 1/70,000 to 1/130,000 births, resulting from abnormalities in the gene encoding fibroblast receptor 2. Establishing its diagnosis is crucial, and genetic testing, including prenatal assessment through imaging techniques such as ultrasound, chorionic villus sampling, genetic analysis, and amniocentesis, is essential. It requires comprehensive multidisciplinary management involving surgical interventions to improve patients' quality of life.

Objective: To describe a clinical case of Apert syndrome in the neonatal period.

Materials and Methods: Retrospective descriptive study, presentation of a clinical case of Apert syndrome in the neonatal period.

Results: Female newborn at 36.2 weeks gestational age, vigorous, with multiple malformations consistent with Apert phenotype characterized by closed metopic suture, low-set ears, nasogenian groove depression, ocular hypertelorism, midfacial hypoplasia, bilateral syndactyly of hands and feet with rudimentary nails. During hospitalization, she remained on CPAP with subsequent weaning, additionally received LED phototherapy for hyperbilirubinemia. Received comprehensive support and management. Traumatological assessment revealed multiple syndactyly with radiographic series of hands and feet showing proper presence and distribution of carpal bones, phalanges, and tarsal bones. Cardiological evaluation showed no relevant findings, while ophthalmological evaluation revealed normal structures. Cranial MRI showed lateral ventricular dilation, congenital cysts, bilateral posterior communicating agenesis. Stable patient with weight gain, good oral and gastric tolerance, referred for outpatient follow- up and multidisciplinary management, pending genetic study.

Conclusions: Given the rarity of the described pathology, early diagnosis is crucial for timely decision-making in management, which should be multidisciplinary to prevent future complications and provide a better quality of life.