Craniosynostosis in Frankfurt, Germany

Syndromic Craniosynostosis

Many different genetic abnormalities have been identified in the various forms of syndromic craniosynostosis .Syndromic craniosynostosis can affect any cranial suture, yielding similar deformities of the skull shape to that describe above. The degree of severity and the more frequent combination of involvement by more than one suture, help distinguish syndromic from non syndromic craniosynostosis. Therefore the surgical techniques used for syndromic deformities do not differ substantially from the techniques described above, except in the degree of change in skull form required and in the need for more comprehensive in skull reshaping to address the multiple suture involvement. Facial and extremity anomalies are also addressed separately.

Apert SyndromeAlthough Eugène Apert, a French pediatrician, is credited with detecting the syndrome, it was a British physician who described the syndrome in 1894. Apert syndrome accounts for approximately 3% of all craniosynostosis cases with an autosomal dominant inheritance pattern with a male-to-female ratio of 1:1. Apert syndrome has a unique skull growth pattern. Patients present with true megaloencephaly, mostly above the 95th percentile. Although patients present with bicoronal craniosynostosis, the central cranial defect extending from the anterior to posterior fontanelles( soft spots in the growing skull), allows vertical brain expansion resulting in a turricephalic (tower shaped) skull.

Characteristic ocular features are include hypertelorism, shallow orbits, proptosis, downslanting palpebral fissures, and occasionally the eyebrows have a break in continuity. The ears are commonly low set and posteriorly angulated. The nose is typically short with a depressed bridge and a round nasal tip. Patients present with a high arched palate, delayed dental eruption and malocclusion. The most notable characteristic for Apert’s syndrome is the complex, usually complete syndactyly of the hands and feet.

Crouzon SyndromeCrouzon syndrome, first described by the French neurologist Octave Crouzon in 1912, is characterized by craniosynostosis, maxillary hypoplasia, shallow orbits, and ocular proptosis. Crouzon syndrome accounts for 5% of all craniosynostosis with a birth prevalence of 15 to 16 per one million. The inheritance pattern includes a risk of passing this condition onto offspring of 50%. Abnormalities of the central nervous system include progressive hydrocephalus, chronic cerebellar herniation, and jugular foramen stenosis with venous obstruction. The premature closure of cranial sutures vary. Most commonly patients present with bilateral coronal craniosynostosis, but sagittal and metopic craniosynostosis are noted too. Premature closure of the cranial suture may be evident at birth or develop later in early infancy. Therefore, follow up is needed in suspected , but not confirmed cases.

Pfeiffer SyndromePfeiffer syndrome was first described by a German pediatrician in 1964. Pfeiffer syndrome is characterized by brachycephaly, broad thumbs or great toes, brachydactyly ( short digits), midface deficiency, ocular hypertelorism (widely separated eyes), downslanting palpebral (eyelid) fissures, and variable syndactyly. The inheritance pattern is autosomal dominant with a broad range of phenotypical penetrance.