Crouzon syndrome, an autosomal dominant condition characterized by craniosynostosis, ocular proptosis and midface hypoplasia, is associated with mutations in fibroblast growth factor receptor 2 (FGFR2) (refs 1-3).
The variable presentation should remind paediatricians to consider mutations in fibroblast growth factor receptor 2 among the aetiologies of exophthalmos.
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.
Exophthalmos, midpupil to lower eyelid margin distances (MRD2) at 11 meridians, and globe position were measured and compared according to the types of decompression.
Patients most commonly presented with a cranial nerve (CN) palsy involving CN III-VI (70%), a visual deficit (62%), headaches (52%), or proptosis (44%).
The patient was started on a trial of the antiangiogenic agent sirolimus (also known as rapamycin), and after 6 months of treatment showed clinical improvement in proptosis supported by radiologic evidence of regression in the larger, left orbital mass, with stability of the smaller, right orbital mass.
IL-13-1112C/T was associated with IgE elevation (P = 0.044) and 2044G/A with proptosis (P = 0.02), but these associations became insignificant after Bonferroni correction (P = 0.22 and 0.10, respectively).
Multivariate analysis (step) showed that the association of either proptosis or CAS with the PPAR gamma gene variant remained significant when age, smoking and TSH-Rab levels were taken into account (P < 0.01).
These findings, combined with the clinical conditions-an ophthalmologic evaluation (that showed the presence of exophthalmos without lagophthalmos and visual acuity deficiency), thyroid ultrasound, and TSH receptor antibody positivity-led to a diagnosis of Graves' disease.