Kleeblattsch\xe4del skull presenting in concert with Pfeiffer syndrome

Mir Ibrahim Sajid,Noor Malik,Gohar Javed,Samira S Balouch

doi:10.1186/s41984-019-0068-1

Mir Ibrahim Sajid, Noor Malik + Show 2 more

Open Access

https://doi.org/10.1186/s41984-019-0068-1

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Abstract

BackgroundKleeblattschädel skull, also known as the cloverleaf is a complex synostosis which presents with an enlarged tri-lobar skull resulting temporal bulging and a flat posterior skull, a rare find in the population. This pansynostosis is associated with other congenital syndromes which include Crouzon, Pfeifer, and Carpenter’s. The genetic disorder Pfeiffer syndrome results from skull bones’ premature fusion characterized by deformities of the hand and feet. The author reports a 10-month-old girl who presented with a tri-lobar skull and wide toes which is a significant finding of Pfeiffer syndrome.Case presentationA 10-month-old girl presents with congenital obstructive hydrocephalus due to cloverleaf skull with horizontally enlarged head and large fontanelles. The child also had mid-facial hypoplasia and pre-axial bilateral lower limb polydactyly. Wide toes were also observed, an indicator of Pfeiffer’s Syndrome. Computed tomography (CAT) scans grossly abnormal craniofacial appearances, with premature closure of the sagittal suture giving a cloverleaf skull appearance. There was also a significant thinning of the brain parenchyma.ConclusionPremature closure of sutures leads to a forced growth in a plane perpendicular to the closed suture. Cloverleaf deformity can present with multiple syndromes such as Pfeiffer’s. This leads to gross alteration of the skull with potential underlying morbidity.

Highlights

Kleeblattschädel syndrome is a complex synostosis which presents with an enlarged tri-lobar skull, enlarged fontanelles resulting in temporal bulging, and a flat posterior skull caused by the premature closure of several sutures [1]
Type 2 consists of cloverleaf skull with Pfeiffer hands and feet together with ankylosis of the elbows
The authors reported changes in the calvarium as being the primary focus of abnormal events leading to synostosis

Summary

Conclusion

Premature closure of sutures leads to a forced growth in a plane perpendicular to the closed suture. Cloverleaf deformity can present with multiple syndromes such as Pfeiffer’s This leads to gross alteration of the skull with potential underlying morbidity. Such presentations are rare to find in the society and should be reported for the medical community to build effective solutions to deal with the deformity. Ethics approval and consent to participate The ethics approval has been taken by the Ethics and Review Committee of The Aga Khan University, Karachi, Pakistan, and a copy will be made available on the request of the editor of the journal. Author details 1Medical Student, The Aga Khan University, Karachi, Pakistan. Author details 1Medical Student, The Aga Khan University, Karachi, Pakistan. 2Department of Surgery, Section of Neurosurgery, The Aga Khan University Hospital, Karachi, Pakistan. 3Department of Surgery, Section of Oral and Maxillofacial Surgery, King Edward Medical University, Lahore, Pakistan. 4Department of Surgery, Section of Neurosurgery, The Aga Khan University, Karachi, Pakistan

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