Clinical assessment and FGFR2 mutation analysis in a Chinese family with Crouzon syndrome

Abstract

Rationale: Crouzon syndrome is an autosomal dominant genetic disorder caused by mutations in fibroblast growth factor receptor 2 (FGFR2) and one of the most common types of craniosynostosis. Here we report the detection of FGFR2 mutation and its related clinical findings in 2 patients with Crouzon syndrome from a Chinese family. Patient concerns: We report a case of a 28-year-old male patient presented with the chief complaint of gradually blurring of his eyes over the last 6 months before visiting our clinics. History revealed low visual acuity in his right eye since childhood. Physical examination showed that both the patient and his mother have the appearance of craniofacial dysostosis, mandibular prognathism, ocular proptosis, short superior lip, scoliosis, and thoracic deformity. Diagnosis: Auxiliary examinations lead to the diagnosis of Crouzon syndrome with binocular optic atrophy, myelinated retina nerve fibers, and ametropia in both eyes, and amblyopia in the right eye of the male patient. The molecular genetic analysis confirmed the diagnosis by detecting a heterozygous pathogenic mutation c.1026C > G (C342W) in exon 10 of FGFR2 in both the patient and his mother, but not in any of the unaffected family members. Interventions and outcomes: None. Lessons: Our study confirms the presence of optic nerve atrophy in patients with Crouzon syndrome carrying FGFR2 C342W mutations and indicates that MRI and funduscopy should be performed to examine the optic nerve changes for patients with Crouzon syndrome.

Crouzon syndrome complicated with binocular strabismus and extraocular muscle fibrosis: a case report

“…Our current case demonstrates that Crouzon syndrome patients can carry the FGFR2 gene c.G812T:p.G271V mutation, extraocular muscle fibrosis, and large-angle exotropia. However, the phenotype of this case differs from that of other studies, which have reported phenotypes associated with mutations like c.1012G > C p.G338R and c.866A > C (Gln289Pro) [ 19 – 22 ]. In this case, the proband was found to have a new c.G812T:p.G271V heterozygous mutation in the FGFR2 gene.…”

FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination

“…The patient did present with mild scoliosis, a phenotype seen occasionally in patients with FGFR2c mutations 43 . The patient also presented with a small slightly dysplastic right kidney with normal renal function.…”

“…[18][19][20][21][22] Unresolved is why humans and mice with The patient did present with mild scoliosis, a phenotype seen occasionally in patients with FGFR2c mutations. 43 The patient also presented with a small slightly dysplastic right kidney with normal renal function. Although no abnormal renal phenotypes have been reported in patients with FGF9 variants, [18][19][20][21][22] in mice FGF9 and FGF20 act redundantly and are crucial for kidney development.…”

Mysterious Bilateral Foot Pain in a Child With Crouzon Syndrome

“…CS, first described by the French neurologist Octave Crouzon in 1912, is the most common craniosynostosis syndrome and is usually diagnosed at birth based on notable craniofacial abnormalities and positive family history [ 7 - 9 ]. However, its diagnosis can be incidental if spontaneous mutations arise and warrant genetic testing [ 8 ].…”