Nonsyndromic and syndromic craniosynostosis in neonatal practice: similarities and differences

Craniosynostoses (ICD - 10: Q75.0) is a heterogeneous group of pathologies characterized by premature fusion of cranial sutures, including isolated (non-syndromic) and syndromic forms associated with genetic syndromes and multiple developmental abnormalities.

The aim of the study was to identify clinical markers of craniosynostosis for timely diagnosis, determination of medical support tactics and improvement of prognostic criteria.

Materials and Methods. A retrospective analysis of the data of 31 children with a verified diagnosis of craniosynostosis was performed. The patients were divided into 2 groups: Group I – 20 children with non–syndromic and group II - 11 people with syndromic forms of craniosynostosis. A comparative analysis of anamnestic, anthropometric data, gender and age characteristics, the presence of craniofacial dysmorphism, and concomitant pathology was carried out.

Results. Non-syndromic forms of craniosynostosis were characterized by an isolated lesion of one cranial suture (90% of cases), male patients predominated among this group (60% of cases). For the syndromic forms of craniosynostosis, polysynostosis turned out to be pathognomonic (81,8% of cases) with the obligatory involvement of a coronary suture (90,9%), female patients prevailed (63,6%). Malformations of the central nervous system were diagnosed exclusively in group II (100% of patients), and abnormalities of the genitourinary system were diagnosed only in group I (40%). Limb defects were more common in group II compared with group I (72,7% and 10—15%, respectively). Pathology of the perinatal period in group II is respiratory disorders due to congenital pneumonia. A molecular genetic study showed that in group II, 10 children had mutations in the FGFR2 gene, and one child with the Pfeiffer phenotype had a mutation in the FGFR1 gene.

Conclusion. The differential diagnostic criteria of the syndromic forms are polysynostosis, malformations of the central nervous system and limbs in combination with pathology of the perinatal period. The detection of concomitant anomalies in patients with cranial deformity is an indication for an in-depth medical and genetic examination.

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