History of Management of Syndromic Craniosynostosis in Children

In 1982 Pruzansky observed that the treatment of craniofacial patients ‘constitutes experimenting with the experiments of nature’ (49). At the same time Munro stated that ‘long term surgical effects can only be determined by evaluating many patients followed for many years in one center’ (50). Two decades later, results of the experiments with the experiments of nature are still largely unknown, and continuous follow-up and further research are needed.

Understanding of Disease

  • 1800 – Sömmerring describes sutures and deformities due to premature fusion: In 1800 Sömmerring first described the structure of sutures and noted that premature sutural fusion would result in deformity, which he had observed in children with synostosis of the lambdoid suture (1).
  • 1830 – Otto describes synostosis: Otto published his observations on premature cranial synostosis in both humans and animals in 1830, believing that the etiology was based on either fetal or birth trauma (2).
  • 1851 – Virchow’s law published: Virchow first introduced the term craniosynostosis in 1851 and also formulated what is today known as Virchow’s law: skull growth is arrested in a perpendicular direction to the closed suture and compensatory overexpansion takes place at patent sutural sites (3).
  • 1906 – Apert describes syndrome that acquires his name: Subsequently, several case reports appeared in the literature. Although brachycephalic craniosynostosis with syndactyly had already been reported toward the end of the nineteenth century, the French pediatrician Apert is generally credited with describing the condition (4).
  • 1912 – Crouzon syndrome described: In 1912, Crouzon, a neurologist, reported the condition that is named after him (5).

Surgical Technique

Late nineteenth century surgery for craniosynostosis described: In 1890 and 1892, respectively, Lannelongue and Lane performed an operation in which they cut channels along the margins of a fused sagittal suture (6, 7).

  • 1921 – description of suture resection: In 1921 Mehner suggested removal of a prematurely closed suture (8).
  • 1927 – description of extensive cranial remodeling: In 1927 Faber and Town recommended a more extensive craniotomy (9). Since then many important contributions have been made by both neurosurgeons and ophthalmologists.
  • 1960s – formation of craniofacial surgical teams: The modern era of craniofacial neurosurgery started in the 1960s with Pruzansky in Chicago and Tessier in Paris, who first established multidisciplinary craniofacial teams. This new generation of craniofacial surgeons showed that infants could safely undergo frontoorbital advancement with cranial vault remodeling and established new treatment protocols. Early craniofacial neurosurgery had focused on cranial sutures, leading to strip craniectomies, but the new idea advocated a holistic approach, which was more successful in creating a normal cranial form.
  • 2000s advances: Minimally invasive methods were introduced with postoperative cranial molding orthosis. 

Technological Development

  • Monobloc distractions: Over the past few years craniofacial surgery has evolved further with monobloc distractions, RED frames (51), and springs (39).
  • Exploration of syndrome genetics: As multidisciplinary teams developed all over the world, clinical geneticists became involved and studied inheritance patterns and syndromic features. In 1993 the first genetic lesion, a specific missense mutation in the MSX2 gene, was identified by Jabs et al. in a large family with autosomal dominant craniosynostosis (10). Subsequently, no further MSX2 mutations were reported in craniosynostosis, but this discovery launched molecular diagnostics by identifying a key gene in calvarial development (11, 12)