BACKGROUND Crouzon syndrome is a rare genetic disorder inherited in autosomal dominant pattern with complete penetration and variable expressivity. Its most notable characteristic feature is premature synostosis of cranial sutures The case presented is of a 4 yr old boy with box like head with microcephaly, protuberant eyes, hydrocephalus, low visual acquity diagnosed as a case of crouzon syndr...

Pycnodysostosis is a rare autosomal recessive skeletal dysplasia caused by the absence of active cathepsin K, which is a lysosomal cysteine protease that plays a role in degrading the organic matrix of bones, acting in bone resorption and bone remodeling. The disease is primarily characterized by osteosclerosis, bone fragility, short stature, acro-osteolysis, and delayed closure of the cranial ...

RATIONALE Craniosynostosis is a disorder characterized by premature fusion of cranial sutures with subsequent development of abnormal craniofacial contour associated with variable skeletal and extra-skeletal abnormalities. In this family syndromic type of craniosynostosis was recognized and the etiology behind diverse forms of deformities have been diagnosed. PATIENT CONCERNS The negative imp...

BACKGROUND Craniosynostosis results from premature closure of one or more cranial sutures, leading to deformed calvaria and craniofacial skeleton at birth. Postoperative complications and outcome in intensive care unit (ICU) is related to surgical method and perioperative management. This study determined the perioperative risk factors, which affect outcome of patients after craniosynostosis su...

Congenital syngnathia is a rare anomaly characterised by the presence of soft tissue (synechia) or bony adhesions (synostosis) between the maxilla and mandible. A wide spectrum and range of severity have been documented in case reports. Primarily it manifests in the inability to open the mouth; impacting on mandibular growth, nutrition, speech and management of the airway. The bony adhesions ca...

Craniosynostosis, the premature fusion of cranial sutures, is one of the most common congenital craniofacial conditions. It can lead to severe neurological and cognitive deficits in children. Surgery, with its inherent risks, is currently the only therapeutic modality. In the investigation of growth factors involved in cranial suture biology, including the fibroblast growth factors (FGF), trans...

Chiari I malformation may not be congenital, but may be acquired as a consequence of skull deformities and other associated intracranial factors in patients with craniosynostosis. Pfeiffer syndrome is one of the many conditions associated with Chiari I malformation. Premature fusion of multiple cranial sutures and cloverleaf skull (kleeblattschädel deformity) are often observed in the calvaria ...

C raniosynostosis, the premature fusion of one or more sutures of the skull, is a common craniofacial anomaly, with an estimated incidence of 1/2000 to 1/3000 births. 2 Characteristic deformities of skull shape occur as a result of different patterns of sutural fusion, while compensatory skull expansion occurs at unaffected sutures to accommodate the growing brain. Premature fusion of the sagit...

Enlargement of the skull vault occurs by appositional growth at the fibrous joints between the bones, termed cranial sutures. Relatively little is known about the developmental biology of this process, but genetically determined disorders of premature cranial suture fusion (craniosynostosis) provide one route to the identification of some of the key molecules involved. Mutations of the MSX2, FG...

OBJECT Chiari malformation (CM) Type I is frequently associated with craniosynostosis. Optimal management of CM in patients with craniosynostosis is not well-established. The goal of this study was to report on a series of pediatric patients with both craniosynostosis and CM and discuss their management. METHODS The authors searched the medical records of 383 consecutive patients treated for ...