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Crouzon Syndrome

About Crouzon Syndrome

Background: In 1912, Crouzon described the hereditary syndrome of craniofacial dysostosis in a mother and son. He described the triad of calvarial deformities, facial anomalies, and exophthalmos. Crouzon syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. It is characterized by premature closure of calvarial and cranial base sutures as well as those of the orbit and maxillary complex (craniosynostosis). Other clinical features include hypertelorism, exophthalmos, strabismus, beaked nose, short upper lip, hypoplastic maxilla, and relative mandibular prognathism. Unlike some other forms of autosomal dominant craniosynostosis, no digital abnormalities are present.
Pathophysiology: Crouzon syndrome is caused by mutations in the fibroblast growth factor receptor-2 (FGFR2) gene but exhibits locus heterogeneity with causal mutations in FGFR2 and FGFR3 in different affected individuals. Premature synostosis of the coronal, the sagittal, and, occasionally, the lambdoidal sutures begins in the first year of life and is completed by the second or third year. The order and rate of suture fusion determine the degree of deformity and disability. Once a suture becomes fused, growth perpendicular to that suture becomes restricted, and the fused bones act as a single bony structure. Compensatory growth occurs at the remaining open sutures to allow continued brain growth. However, multiple sutural synostoses frequently extend to premature fusion of the skull base sutures, causing midfacial hypoplasia, shallow orbits, a foreshortened nasal dorsum, maxillary hypoplasia, and occasional upper airway obstruction.
Frequency:
? In the US: Prevalence is 1 case per 60,000 (approximately 16.5 cases per million population) live births. Crouzon syndrome makes up approximately 4.8% of all cases of craniosynostosis.
Mortality/Morbidity: Upper airway obstruction can lead to acute respiratory distress. Increased intracranial pressure and optic atrophy may occur.
Race: No known race predilection exists.
Sex: No known sex predilection exists.
Age: The condition is detected in the newborn or infant period because of dysmorphic features.
Therapy: classic therapies like Physio- and Ergotherapy and Logopedy are
performed to the concerned people. Another method to improve socialisation
and learning abilities is dolphin assisted therapy.
REF. www.medicine.com/ped/topic
Dr MarionAbout Crouzon Syndrome
Background: In 1912, Crouzon described the hereditary syndrome of craniofacial dysostosis in a mother and son. He described the triad of calvarial deformities, facial anomalies, and exophthalmos. Crouzon syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. It is characterized by premature closure of calvarial and cranial base sutures as well as those of the orbit and maxillary complex (craniosynostosis). Other clinical features include hypertelorism, exophthalmos, strabismus, beaked nose, short upper lip, hypoplastic maxilla, and relative mandibular prognathism. Unlike some other forms of autosomal dominant craniosynostosis, no digital abnormalities are present.
Pathophysiology: Crouzon syndrome is caused by mutations in the fibroblast growth factor receptor-2 (FGFR2) gene but exhibits locus heterogeneity with causal mutations in FGFR2 and FGFR3 in different affected individuals. Premature synostosis of the coronal, the sagittal, and, occasionally, the lambdoidal sutures begins in the first year of life and is completed by the second or third year. The order and rate of suture fusion determine the degree of deformity and disability. Once a suture becomes fused, growth perpendicular to that suture becomes restricted, and the fused bones act as a single bony structure. Compensatory growth occurs at the remaining open sutures to allow continued brain growth. However, multiple sutural synostoses frequently extend to premature fusion of the skull base sutures, causing midfacial hypoplasia, shallow orbits, a foreshortened nasal dorsum, maxillary hypoplasia, and occasional upper airway obstruction.
Frequency:
? In the US: Prevalence is 1 case per 60,000 (approximately 16.5 cases per million population) live births. Crouzon syndrome makes up approximately 4.8% of all cases of craniosynostosis.
Mortality/Morbidity: Upper airway obstruction can lead to acute respiratory distress. Increased intracranial pressure and optic atrophy may occur.
Race: No known race predilection exists.
Sex: No known sex predilection exists.
Age: The condition is detected in the newborn or infant period because of dysmorphic features.
Therapy: classic therapies like Physio- and Ergotherapy and Logopedy are
performed to the concerned people. Another method to improve socialisation
and learning abilities is dolphin assisted therapy.
REF. www.medicine.com/ped/topic

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