The Southcote Primary schoolboy was born with metopic
craniosynostosis in October 2010, which meant that his skull had fused before birth - something that usually happens after head growth has finished.
During physical examination, macrocephaly with the cephalic perimeter of 56 cm (>97 centile) and plagiocephaly, height of 149 cm (25 centile), weight of 49.3 kg (60 centile), three trichoglyphs on the scalp, a prominent metopic
ridge, asymmetric and dysmorphic facial features (figure 1) with a high palate were observed.
But medics knew that as Joshua grew older, the Metopic
Synostosis which was preventing his skull and brain growing properly could leave him with learning difficulties, crippling headaches and sight problems.
In the pre-pubertal phase of laboratory animal, there is metopic
suture closure and ossific centers emerge which serve as their age indicators.
Idiosyncratic variation included the presence of a metopic
suture and asymmetrical nasal bones, which would have affected the alignment of the nasal bridge.
Brief communication: The size of the human frontal sinuses in adults presenting complete persistence of the metopic
In addition, atypical clinical findings including metopic
suture synostosis, edema in the fundus oculi, epilepsy, and central apnea have also been described in patients carrying the p.Ser252Trp mutation (9).
Matthew was born with a rare cranial birth defect called metopic
synostosis, a condition that affects one in 15,000 babies, according to data from Boston Children's Hospital.
ACTB is also associated with BRWS, a malformation syndrome characterized by short stature, hypertelorism, bilateral ptosis, ocular colobomata, metopic
ridging, and cerebral anomalies .
A study on long-term results of surgery quoted low complication and re-operation rates in the treatment of isolated metopic
craniosynostosis, but also quoted worsening aesthetic outcomes over time.4
"Children with a condition known as metopic
craniosynostosis develop a vertical ridge in their foreheads due to a premature fusing of the cranium's frontal bones," said Arshad Muzaffar, M.D., professor in the Division of Plastic Surgery at the MU School of Medicine and senior author of the study.
There was persistent metopic
suture in the frontal bone.