These are a group of congenital malformations that involve the cranial cavity and the central nervous system.The Dandy-Walker variant is the commonest posterior fossa malformation, while craniosynostosis is the premature fusion of one or more of the cranial sutures causing abnormal shape of the head. They present with hydrocephalus and features of increased intracranial pressure, thus, the goal...

Plagiocephaly (oblique skull) is premature fusion of one of the coronal sutures. Frontal plagiocephaly is a rare congenital deformity in the skull that is the most complicated form of craniosynostosis to treat. Examination of all sutures is necessary for diagnosis of craniosynostosis In this article, a 10-month-old, healthy girl with deformity of the right forehead and orbit that is caused by f...

Apert syndrome is a congenital type 1 acrocephalosyndactyly characterized by craniosynostosis, dysmorphic facial features and symmetrical syndactyly. There premature fusion of cranial sutures which leads to restriction intracranial orbital space expansion giving characteristic appearance. We are reporting two cases different age groups from ophthalmic point view, with sets ocular manifestation....

Large scale surveillance studies, case studies, as well as cohort studies have identified the influence of thyroid hormones on calvarial growth and development. Surveillance data suggests maternal thyroid disorders (hyperthyroidism, hypothyroidism with pharmacological replacement, and Maternal Graves Disease) are linked to as much as a 2.5 fold increased risk for craniosynostosis. Craniosynosto...

Beare-Stevenson cutis gyrata syndrome (BSS) is a human genetic disorder characterized by skin and skull abnormalities. BSS is caused by mutations in the FGF receptor 2 (FGFR2), but the molecular mechanisms that induce skin and skull abnormalities are unclear. We developed a mouse model of BSS harboring a FGFR2 Y394C mutation and identified p38 MAPK as an important signaling pathway mediating th...

Craniosynostosis is the premature fusion of the cranial vault sutures. We have previously described a colony of rabbits with a heritable pattern of nonsyndromic, coronal suture synostosis; however, the underlying genetic defect remains unknown. We now report a molecular analysis to determine if four genes implicated in human craniosynostosis, TWIST1 and fibroblast growth factor receptors 1-3 (F...

Craniosynostosis (CS) is a congenital disease that arises due to premature ossification of single or multiple sutures, which results in skull deformities. The surgical management single-suture CS continues evolve and driven by robust body clinical research; however, the molecular underpinnings remain poorly understood. Despite long-standing hypotheses regarding interaction genetic predispositio...

objective to evaluate the developmental situation of children that undergo operation because of syndromic and non-syndromic craniosynostosis. materials & methods in this prospective study, 24 children (4 to 16 months of age) who underwent neurosurgeryical intervention because of non-syndromic (79%) and syndromic (21%) craniosynostosis were recruited. for psychological evaluation, the bayley sca...

Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture. Incidence is estimated at 1/15,000 births. Males are more frequently affected than females (sex ratio of 2:1) and the frequency of trigonocephalic twins is unexpectedly high. The premature closure of the metopic suture results in deformation of the anterior portion of ...

Apert syndrome (AS) is a rare type of congenital craniofacial dysmorphic and severe syndactyly the hands feet. Fibroblast growth factor receptor (FGFR) gene mutations are suspect to be involved in this anomaly. The distinct features craniosynostosis-a condition premature closure skull's sutures-, midface hypoplasia-an incomplete development middle face-, syndactyly-webbed fingers or toes-. anor...