Clinical Manifestations of Crouzon Syndrome.
Abstract: Crouzon syndrome shares clinical similarities to those depicted in the illustrated case. Diagnosis confirmation typically involves genetic and radiological assessments. This image effectively showcases the key clinical and radiological traits of Crouzon syndrome, thereby suggesting its presumptive diagnosis when these characteristics are observed in patients.
Keywords: Crouzon syndrome, Craniosynostosis
Key clinical message: Crouzon syndrome, the most prevalent syndromic craniosynostosis, is typified by craniofacial dysostosis. Given its overlapping clinical features with conditions like Apert syndrome, a comprehensive understanding of this disorder is essential for medical practitioners.
Case presentation: A 17-year-old female patient presents with congenital craniofacial anomalies, characterized by dysmorphic cranial and facial features. These included an enlarged cranial vault, frontal bossing with prominent supraorbital ridges, and apparent pseudo-prognathism. Additionally, the patient exhibits bilateral proptosis, strabismus, a depressed nasal bridge, widely spaced dentition, a highly arched palate, and low-set ears. While the upper extremities display no discernible anomalies, syndactyly is evident bilaterally in the lower extremities. Radiographic examination via lateral skull X-ray reveals a distinctive "copper beaten" appearance and fusion of the second and third cervical as well as the fourth and fifth cervical vertebrae (Figure 1). The patient was born prematurely at 28 weeks via uncomplicated vaginal delivery to consanguineous parents. Family history is notable for similar phenotypic presentations and a history of seizures in a brother who passed away at the age of 15. Genetic analysis identified a mutation in the fibroblast growth factor receptor 2 gene. The confluence of clinical manifestations, radiographic findings, and genetic data collectively support a presumptive diagnosis of Crouzon syndrome.
Discussion/Conclusion: Crouzon syndrome is characterized by a spectrum of clinical features, including the obliteration of coronal and sagittal sutures, acro cranium flattening, a high and broad forehead, a hypoplastic maxilla with pseudo prognathism, hypertelorism, divergent strabismus, a beaked nose, and dental malocclusion. Diagnostic confirmation typically requires radiographic assessments of the skull, spine, and hand. Skull radiography may reveal oxycephaly, deep digitate impressions, a truncated anterior cranial fossa, and underdeveloped lateral sinuses. In contrast, spinal X-rays commonly depict lumbarization and the presence of bifid spinous processes.[1]
Authors' contributions: Nayab Munib and Qaisar Ali Khan conceptualized the idea, Alondra M. Robles was responsible for image editing and manuscript review, and Naod F. Belay, Reviat Shah, and Muhammad Afzal were responsible for writing the manuscript. All the co-authors approved the manuscript before submission.