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Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II.
Taiwan J Obstet Gynecol
May 2024
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Objective: We present perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II (TD2).
View Article and Find Full Text PDFDecompressive craniectomy incisions: all roads lead to bone.
Br J Neurosurg
April 2024
Department of Neurosurgery, University of Maryland, Baltimore, MD, USA.
Introduction: Decompressive craniectomy and craniotomy are among the most common procedures in Neurosurgery. In recent years, increased attention has focused on the relationships between incision type, extent of decompression, vascular supply to the scalp, cosmetic outcomes, and complications. Here, we review the current literature on scalp incisions for large unilateral front-temporo-parietal craniotomies and craniectomies.
View Article and Find Full Text PDFSecondary metopic craniosynostosis after posterior cranial decompression in cloverleaf skull deformity.
Childs Nerv Syst
June 2024
Cleft and Craniofacial South Australia, Women's and Children's Hospital, North Adelaide, SA, Australia.
Cloverleaf skull deformity or Kleeblattschadel syndrome is a severe condition where multiple cranial sutures are absent and prematurely fused, leading to a trilobate head shape. The remaining open sutures or fontanelles compensate for rapid brain expansion, while the constricted fused calvarium restricts brain growth and results in increased intracranial pressure. Recent data show that early posterior cranial and foramen magnum decompression positively affects infants with cloverleaf skulls.
View Article and Find Full Text PDFRe-imagining early cloverleaf skull deformity management from front to back approach-30 years on.
Childs Nerv Syst
December 2023
Department of Neurosurgery, Women's and Children's Hospital, North Adelaide, Adelaide, SA, Australia.
The cloverleaf skull deformity remains among the most complicated craniofacial conditions to successfully manage. Many cases achieve largely unsatisfactory outcomes due to the requirement for frequent reoperation on the cranial vault and failure to deal with all the elements of the craniofaciostenosis in a timely fashion. Early cranial vault surgery without addressing the cranial base deformity and its attendant cerebrospinal fluid flow changes is invariably challenging and disappointing.
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