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Craniosynostosis is defined as the premature fusion of one or more cranial sutures, often resulting in an abnormal head shape.
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Three-dimensional CT reconstructions show the types of alterations of head shape in children.
Márquez JC, Bustos CH, Wagner MW. Craniosynostosis: Understanding the Misshaped Head. Radiographics. 2021;41(2):E45-E46. doi:https://doi.org/10.1148/rg.2021200127
| Craniosynostosis | Suture closure | Description |
|---|---|---|
| Scaphocephaly or dolichocephaly | Sagittal suture | Increased AP diameter |
| Brachycephaly | Bilateral coronal sutures | Increased transverse diameter |
| Anterior plagiocephaly | Unilateral coronal suture | Flattening of forehead and elevated supraorbital margin on the affected side |
| Posterior plagiocephaly | Unilateral lambdoid suture | Flattened ipsilateral occiput |
| Trigonocephaly | Metopic suture | Pointed forehead |
| Cloverleaf skull or kleeblattschädel | Coronal, lambdoid, metopic and sagittal sutures | Trilobar skull deformity: ‣ |
Syndromic craniosynostosis: https://doi.org/10.7759/cureus.50448
| Categories | ‣ | ‣ | ‣ | ‣ | ‣ | Craniofronto-nasal syndrome |
|---|---|---|---|---|---|---|
| Sutures | Coronary (bilateral) | Coronary (bilateral) | Coronary (bilateral) | Coronary | Coronary or frontal | Coronary |
| Skull/facial abnormalities | Hypertelorism, cleft palate, midface hypoplasia, proptosis, denture problems, low-set ears | Cloverleaf skull, beak nose, hypertelorism, proptosis, mandibular prognathism, midface hypoplasia | Cloverleaf skull, proptosis, severe midface hypoplasia (types 2, 3), mild hypoplasia (type 1) | Macrocephaly hypertelorism, proptosis, midface hypoplasia | Similar phenotype to Muenke syndrome + low hairline, small ears | Brachycephaly, wide nasal bridge, wide or bifid nasal tip |
| Other abnormalities | Syndactyly and joint stiffness, conductive hearing loss, intellectual disability, and/or developmental delay | Fusion of the tarsal bones, and conductive hearing loss | Wide thumbs, vertebral fusions, visceral anomalies (types 1 ,2, 3) Mental retardation, conductive hearing loss (types 2, 3) | Fusion of the tarsal and carpal bones, developmental delay, neurocognitive hearing loss (rarely) | Syndactyly of two or three fingers, intellectual disability | Asymmetrical shortening of the lower limb, loose joints, cutaneous syndactyly, grooved nails |
| Genetic background* | FGFR2 | FGFR2, FGFR3 | FGFR2, FGFR1 | FGFR3 | TWIST1 | EFNB1 |
| Chromosome | 10q26 | 10q26, 4p16.3 | 10q26, 8p11.2-11.1 | 4p16.3 | 7p21 | Xq12 |
Carpenter syndrome
Acrocephaly, with other Congenital Malformations", Proceedings of the Royal Society of Medicinal Medicine, v. 2
Crouzon Syndrome
Poster Presentation, 3rd ASNACC (3rd Asian Society for Neuro-anesthesia and Critical Care– 12th InaSNACC), Bali, Indonesia.
Pfeiffer syndrome:
Tower skull or pyrgocephaly is a cranial malformation in the form of noticeably steep parietal bones and occipital bones, as well as a forehead receding obliquely upwards, from premature synostose formation and frequent space narrowing of the skull, in various neurological disorders, especially optic and olfactory atrophy. Dementia is by no means usually, but at least not infrequently, associated with it, while short stature is usually not present, but at least once in a while can happen. as the following case shows: A 13½ year old girl (Fig. 1) is only 123 cm large. She shows a towering skull of very excessive form, measuring 41 cm from the root to the occipital protuberance; Fingers and toes are deformed. There is moderate dementia, which, however, has become more serious in recent years with progressive physical debility.
Schwachsinn und Hirnkrankheiten mit Zwerkgwuchs", Monatsschrift fur Psychiatrie und Neurologie, Bd. XXXV
Thanatophoric dysplasia
De vrucht van den mensch en van de zoogdieren, etc / Auctore W. Vrolik. Amstelodami : G.M.P. Londonck, 1849 Plate XXXV
Radiographic appearance:
| Premature closure | Imaging finding |
|---|---|
| All sutures | ‣ |
| Sagittal, coronal & lambdoid | ‣ |
| Coronal |
Case report:
A case of syndromic Craniosynostosis in a 3 year old male child with a lifelong history of epilepsy on medication
A case of syndromic craniosynostosis in a 3 year old male child with a lifelong history of epilepsy on medication. Note the ‣ of the cranial vault along with prominent bilateral proptosis as a result of premature closure of the major cranial sutures.
Case courtesy Dr Partha Nath // #SMCHCase
Radiography:
X-ray of the cranium of the same patient in which the skull resembles a beaten piece of metal. Note the bevelling of the inner table of the cranium due to the pressure exerted by the growing brain against a microcephalic skull characterized by a premature closure of all the major suture lines
Case courtesy Dr Nabarun Das, MD // #SMCHCase
Nature Disease Primer:
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Craniosynostosis is characterized by the premature fusion of one or more major cranial sutures at birth or soon after. Single-suture non-syndromic craniosynostosis (NSC) is the most common form of craniosynostosis and includes the sagittal, metopic, unicoronal and unilambdoid subtypes. Characterized by an abnormal head shape specific to the fused suture type, NSC can cause increased intracranial pressure. Cranial sutures either originate from the neural crest or arise from mesoderm-derived mesenchymal stem cells. A mixture of environmental and genetic factors contributes to NSC, with genetic causes following a largely polygenic model. Physical examination is used to identify the majority of patients, but accompanying radiographic imaging can be confirmatory. The three major surgical techniques in use to treat NSC are cranial vault remodelling, strip craniectomy and spring-assisted cranioplasty. Surgical intervention is ideally performed in the first year of life, with a mortality of <1%. Health-care disparities contribute to delayed initial presentation and timely repair. Optimal timing of surgery and comparative outcomes by surgical technique remain under active study. School-age children with treated NSC on average have subtle, but lower cognitive and behavioural performance. However, patient-reported quality of life outcomes are comparable to those in control individuals.
Non-syndromic craniosynostosis. Nat Rev Dis Primers 11, 25 (2025). https://doi.org/10.1038/s41572-025-00613-6
