Abstract: Crouzon syndrome present similarly to the one we
presented in this image, and genetic and radiological studies are used
to confirm the diagnosis. This image shows the typical clinical and
radiological features of Cruzon syndrome, so that if these are present
in a patient, the diagnosis of Cruzon syndrome should be presumed.
Key words: Cruzon syndrome, Craniosynostosis
Key clinical message: Cruzon syndrome is the most common
syndromic craniosynostosis characterized by craniofacial dystosis. The
syndrome shares some clinical features with other conditions such as
Apert syndrome.
Case presentation: A 17 years old female for facial deformities
since birth. On examination, she had dysmorphic cranial and facial
features curtailing enlarged cranial vault with frontal bossing,
maxillary hypoplasia and relative mandibular proganthism. Ocular
manifestations such as shallow orbits, hypertelorism, bilateral
proptosis, exophthalmos and strabismus were present. Other facial
features included depressed nasal bridge, wide spaced teeth, highly
arched palate and low set ears. Her hands were normal but feet showed
syndactyly bilaterally. X-ray skull lateral view showed copper beaten
appearance and fused 2nd and 3rdcervical and 4th and 5th cervical
vertebrae. (Figure.1) The patient was born as a result of consanguineous
marriage at 28 week of gestation through normal vaginal delivery. Family
history was positive for similar condition and seizures in one brother
who died at the age pf 15 years. Genetic studies revealed mutation of
fibroblast growth factor receptor 2. Based on the clinical features, x
ray findings and genetic what is the most likely diagnosis?
Discussion/ conclusion: The clinical features of Cruzon
syndrome includes obliterated coronal and sagittal sutures, flattening
of the acrocranium, high and wide forehead, hypoplastic maxilla with
pseudo prognathism, hypertelorism, divergent squint, beaked nose and
malocclusion of the teeth. Skull, spine and hand radiography is usually
needed to confirm the diagnosis. Skull radiograph can show oxycephaly,
deep digitate impression, short anterior cranial fossa, and
underdeveloped lateral sinuses, while x-ray spin usually reveals
lumbarization and the presence of bifid spinous
process.1
Authors contribution: Nayab Munib and Qaisar Ali Khan
conceptualized the idea, Alondra M. Robles was responsible for image
editing, Naod F.Belay, Reviat Shah and Muhammad Afzal were responsible
for writing the manuscript. All the co-authors approved the manuscript
before submission.