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Oxycephaly—systematic review, case presentation, and diagnostic clarification

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Abstract

Purpose

Oxycephaly is a specific phenotype of multi-suture craniosynostosis that is often misrepresented. This study aims to review the relevant literature, clarify the diagnostic criteria, and present an alternate approach to its management.

Methods

Published literature regarding oxycephaly was reviewed from 1997, when the largest series was published, until 2022. All cases at a single institution were then retrospectively reviewed.

Results

Over the last 25 years, four studies met the inclusion criteria, none of which specifically defined oxycephaly. One case, in one study, was potentially consistent with the phenotype. An institutional review yielded two patients who met the original diagnostic criteria set forth by Renier and Marchac. Both patients had unexplained speech delays, mild retinal nerve fiber layer thickening, and diffuse inner table scalloping, along with the characteristic oxycephalic phenotype. One patient also had a direct intracranial pressure (ICP) measurement of 25 mmHg, and the other had a Chiari I malformation. Both were treated with posterior vault distraction osteogenesis (PVDO) to alleviate the cephalo-cranial disproportion while simultaneously allowing for turricephaly correction.

Conclusions

Oxycephaly presents with late onset multi-suture fusion. Patients have patent sutures at birth. Midface hypoplasia and known syndromic associations are absent. Patients demonstrate supraorbital recession, an obtuse fronto-nasal angle, and turricephaly without substantial brachycephaly. Over 60% of patients have symptomatic ICP elevation, the presentation of which ranges from headaches to rapidly progressive blindness. This rare form of craniosynostosis is particularly virulent and likely often missed due to diagnostic ambiguity and its relatively mild phenotype.

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Authors and Affiliations

  1. Division of Plastic, Reconstructive and Oral Surgery, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Matthew E. Pontell, Carlos E. Barrero, Connor S. Wagner, Lauren K. Salinero, Jordan W. Swanson, Jesse A. Taylor & Scott P. Bartlett

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  1. Matthew E. Pontell
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  2. Carlos E. Barrero
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  3. Connor S. Wagner
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  4. Lauren K. Salinero
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  5. Jordan W. Swanson
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  7. Scott P. Bartlett
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Contributions

Matthew Pontell and Scott Bartlett have designed the study, acquired the data, interpreted the data, and have drafted the manuscript. Carlos Barrero, Connor Wagner, Lauren Salinero, Jordan Swanson, and Jesse Taylor have interpreted the data and revised the manuscript substantially. Matthew Pontell, Carlos Barrero, Connor Wagner, Lauren Salinero, Jordan Swanson, Jesse Taylor, and Scott Bartlett have all approved the manuscript in its final form and have agreed both to be personally accountable for the author’s own contributions and to ensure that questions related to the accuracy or integrity of any part of the work, even ones in which the author was not personally involved, are appropriately investigated, resolved, and the resolution documented in the literature.

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Correspondence to Scott P. Bartlett.

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Pontell, M.E., Barrero, C.E., Wagner, C.S. et al. Oxycephaly—systematic review, case presentation, and diagnostic clarification. Childs Nerv Syst 39, 3041–3049 (2023). https://doi.org/10.1007/s00381-023-06048-2

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