Genetic advances in craniosynostosis- Part 2
Craniosynostosis (CS), which is a clinically and genetically heterogeneous congenital anomaly, refers to the premature ossification of one or more skull sutures, affecting approximately 1 in 2,500 live births. In majority cases, it occurs as an isolated congenital anomaly known as nonsyndromic craniosynostosis (NCS) whose genetic and environmental causes are still unknown.
NCS is found in approximately 75% of all patients with CS and is usually classified based on the type of suture fusion (sagittal, metopic, unicoronal, etc) that leads to an abnormal skull shape such as dolichocephaly, trigonocephaly, anterior etc, where in sagittal synostosis is deemed the most frequent form, accounting for 45%-58% of NCS (1,9–2,3 per 10,000 live births).
Metopic synostosis, according to epidemiological studies, has become the second most prevalent form which occurs in over 25% of all NCS patients as a significant rise in the Western World over the last two decades. The cause factors are numerous, including- increased exposure to environmental risk factors or improved diagnosis.
The third most common NCS is known as Unicoronal synostosis, accounting for less than 15% of NCS in the large cohorts analysed till date. Bicoronal synostosis is approximately half as frequent as Unicoronal form. It also leads to brachycephaly.
Lambdoid synostosis is the least common, accounting for only 1% of all CS and 3% of NCS.
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