The Baller-Gerold syndrome is a rare syndrome with very few cases published in literature. Craniosynostosis and radial aplasia are striking features, easy to diagnose. However, there are many differential diagnoses. Often, the question raised is whether the Baller-Gerald syndrome is a distinct entity. We report a patient with findings of craniosynostosis and radial aplasia consistent with the d...

INTRODUCTION: Traditional frontoorbital advancement with a supraorbital bar is the standard technique for correcting coronal craniosynostosis. However, several reports indicate that cranioplasty using distraction osteogenesis can be an alternative. To maximize the advantages of distraction, preservation of the dura attachment to the frontal bone appears to be important. Therefore, we designed a...

Craniosynostosis represents premature suture fusion of the fetal and neonatal skull. Pathogenesis of craniosynostosis is complex and probably multifactorial. Growth of skull bones is strictly connected with the expanding growth of the brain and cranial malformations or prematurely fused sutures cause abnormal head shape. In order to diagnose the craniosynostosis, physical examination, plain rad...

Craniosynostosis associated with Chiari malformation (CM) is usually found in infants with an underdeveloped posterior fossa. We here present a case of adult craniosynostosis, CM, and symptomatic syringomyelia caused by the protrusion of the posterior rim of the foramen magnum without a tight posterior fossa. A 22-year-old woman with an abnormal head shape and forearm hypesthesia was given a di...

INTRODUCTION: Traditional frontoorbital advancement with a supraorbital bar is the standard technique for correcting coronal craniosynostosis. However, several reports indicate that cranioplasty using distraction osteogenesis can be an alternative. To maximize the advantages of distraction, preservation of the dura attachment to the frontal bone appears to be important. Therefore, we designed a...

DESCRIPTION A 22-month-old child presents with craniosynostosis and the pictured limb deformities.

Normal extension and skull expansion is a synchronized process that prevails along the osteogenic intersections of the cranial sutures. Cranial sutures operate as bone growth sites allowing swift bone generation at the edges of the bone fronts while they remain patent. Premature fusion of one or more cranial sutures can trigger craniosynostosis, a birth defect characterized by dramatic manifest...

TCF12-related craniosynostosis can be caused by small heterozygous loss-of-function mutations in TCF12. Large intragenic rearrangements, however, have not been described yet. Here, we present the identification of four large rearrangements in TCF12 causing TCF12-related craniosynostosis. Whole-genome sequencing was applied on the DNA of 18 index cases with coronal synostosis and their family me...

Genoa syndrome was first described by Camera et al in 1993 in two patients with semilobar holoprosencephaly (HPE), craniosynostosis and abnormal small hands with cone-shaped epiphyses and hypoplastic terminal phalanges of fingers (OMIM: 601370). In 2001, Lapunzina et al reported a case of craniosynostosis and HPE associated with several other malformations and suggested that these findings coul...

Apert syndrome (AS) is one of at least nine disorders considered members of the fibroblast growth factor receptor (FGFR) -1, -2, and -3-related craniosynostosis syndromes. Nearly 100% of individuals diagnosed with AS carry one of two neighboring mutations on Fgfr2. The cranial phenotype associated with these two mutations includes coronal suture synostosis, either unilateral (unicoronal synosto...