Craniosynostosis Neurology, Psychiatry, Physical medicine

Craniosynostosis are terms for the premature closure of one or more cranial sutures; the result is always an abnormal skull shape. These terms are only applicable to infants in whom the sutures close while the brain is growing. Early closure of sutures in infants with microcephaly is not premature because the ICP required to keep sutures apart is lacking. Most cases of craniostenosis are sporadic and of uncertain etiology. Autosomal dominant and recessive forms of single-suture closure occur. Craniostenosis may be one feature of a larger recognized syndrome of chromosomal or genetic abnormality. Many of the genetic disorders are secondary to mutations of FGFR. FGFR disorders are often associated with syndactyly or polydactyly whereas chromosomal disorders are usually characterized by other limb malformations and growth retardation. Clinical features. In non-syndromic craniostenosis, the only clinical feature is an abnormal head shape. Normal bone growth is impaired in a plane perpendicular to the fused sutures, but is able to occur in a parallel plane. The cause of scaphocephaly is premature fusion of the sagittal suture, brachycephaly is premature fusion of both coronal sutures, plagiocephaly is premature fusion of one coronal or one lambdoid suture, trigonocephaly is premature fusion of the metopic suture, and oxycephaly is premature fusion of all sutures. When several sutures close prematurely, the growing brain is constricted and symptoms of increased ICP develop. Communicating and noncommunicating hydrocephalus occur more frequently in children with craniostenosis than in normal children. Two-suture craniostenosis is common. Diagnosis. Visual inspection of the skull and palpation of the sutures are sufficient for diagnosis in most cases of one- or two-suture craniostenosis, and three-dimensional cranial CT scans confirm the diagnosis. Plain films of the skull show a band of increased density at the site of the prematurely closed sutures. Management. The two indications for surgery to correct craniostenosis are to improve the appearance of the head and to relieve increased ICP. The cosmetic indication should be used sparingly and only to make severe deformities less noticeable. The early use of a helmet may be beneficial in reshaping the head in early cases of partial craniostenosis.