Point Mutation of FGFR2 in Crouzon Syndrome Patients
- Patient Serial No - 1
Age:
0
Sex:
female
Location:
dhaka
Mutation Type:
missense
Mutation:
cystine 342 in exon 9
Clinical Features:
She had enlarged cranial vault with frontal bossing, maxillary hypoplasia and a relative mandibular prognathism was found. Ocular manifestations such as shallow orbits, hypertelorism, bilateral proptosis, exophthalmos, and strabismus (non-paralytic) were present. Other facial features included short and incompetent upper lip, high arched palate, depressed nasal bridge, and low-set ears. Audiological assessment was done. Hearing was found to be normal. Her hands and feet showed no obvious abnormalities.
Biochemical Data:
On anthropometry, her weight for age was just below the 10th percentile, length for age was at the 50th percentile, weight for length just below the 10th percentile.
treatement and management:
The treatment goal was to allow the increase in size of the skull to make room for the growing brain and to restore a normal head shape. So, strip craniotomy was done by Pi procedure. A section of skull, shaped like the Greek letter pi was removed. After surgery, an I/V antibiotic was given and there were no complications. As the condition of the baby was stable the baby was discharged and advised follow up. Patient came for follow up 21 days (3 weeks) later. Patient’s condition was stable, wound healed well, no neurological deficits were found. Fundoscopic examination showed that the papilloedema reduced from grade 2 to grade 1 based on the Modified Frisén Scale, although there was little change in exophthalmos and strabismus.
Remarks:
On ophthalmological evaluation by fundoscopy, papilloedema was present in both eyes which corresponds to grade 2 Modified Frisén Scale. The skull radiographs revealed a “brachycephalic” skull shape, hypoplastic maxilla, and a zygoma with shallow orbits. Other routine hematological and biochemical tests were within normal limits.