Early fusion of the skull is the hallmark of a group of conditions called craniosynostoses. Crouzon syndrome affects about 5 percent of all babies with craniosynostosis. French neurologist Louis E. Crouzon first described this condition in the early 20th century. People with Crouzon syndrome have a normal life expectancy. Most children with this condition are unaffected intellectually.
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Alternative titles; symbols. Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism Reardon et al. Crouzon first described this syndrome in a family. Shiller observed autosomal dominant transmission of Crouzon craniofacial dysostosis in 23 family members spanning 4 generations.
There was marked variability in both cranial and facial manifestations. Dodge et al. Devine et al. Death from respiratory problems occurred at the age of 23 months. Cohen et al. Papilledema resulting from increased intracranial pressure secondary to a reduction in cranial vault size was found in the 4. Reddy et al. Cinalli et al. Nineteen of these patients required treatment for progressive hydrocephalus and Four individuals had syringomyelia and another had a respiratory standstill, whereas the remaining patient had painful torticollis.
Bagheri-Fam et al. Craniofacial features included brachycephalic craniosynostosis for which she required surgery, proptosis with downslanting palpebral fissures, and low-set dorsally rotated ears. The patient also had short stature and limited movement of the elbows and knees, but no anomalies of the hands or feet. She presented with delayed puberty, primary amenorrhea, female external genitalia, and Mullerian structures, and underwent gonadectomy due to the presence of bilateral ovarian tumors.
Histologic analysis revealed bilateral dysgerminoma, which apparently developed from preexisting gonadoblastoma. The gonads lacked seminiferous tubules, and only a few Sertoli- and Leydig-like cells were detected.
Fogh-Andersen , Flippen , and Shiller traced Crouzon craniosynostosis through 4 generations of 3 different families, consistent with autosomal dominant inheritance.
Pinkerton and Pinkerton observed the disorder in a mother and 2 of her 3 daughters. Vulliamy and Normandale identified 14 cases of Crouzon disease in 4 generations of a family with several instances of male-to-male transmission.
Jones et al. Rollnick described 2 brothers with Crouzon syndrome born to normal, unrelated parents, and proposed germinal mosaicism as the explanation.
Kreiborg and Cohen suggested germinal mosaicism as the basis for 2 affected sibs with the same mother but different fathers. The mother and both fathers were completely normal.
Goriely et al. Levels of maternal somatic mosaicism for the mutation were estimated to range from 3. Since her daughter inherited the same mutation, it was presumed to be present also in the mother's germline. The findings underlined the importance of parental molecular testing for accurate genetic counseling of the risk of recurrence for Crouzon syndrome, which is most often due to a de novo mutation resulting from a paternal age effect.
In a large kindred with Crouzon craniofacial dysostosis, Preston et al. A maximum pairwise lod score of 4. In a note added in proof, Preston et al. Two of the genetic marker loci were within 10qq Reardon et al. Because no evidence of genetic heterogeneity on the basis of linkage studies had been found, Reardon et al. Jabs et al. Charnas et al. However, Meyers et al. In 22 of 41 probands with Crouzon syndrome or Pfeiffer syndrome , Glaser et al.
All the mutations were paternal in origin. Advanced paternal age was noted for the fathers of patients with Crouzon syndrome or Pfeiffer syndrome, compared with the fathers of control individuals. This finding extended previous information on advanced paternal age for sporadic FGFR2 mutations causing Apert syndrome and FGFR3 mutations causing achondroplasia In a year-old girl with Crouzon-like craniosynostosis and 46,XY complete gonadal dysgenesis, Bagheri-Fam et al.
DNA from the proband's parents was unavailable for study. Whole-exome sequencing to search for potential modifier variants influencing the proband's phenotype revealed single-nucleotide variants or indels in genes. Cohen and Kreiborg estimated that Crouzon syndrome represents approximately 4.
The birth prevalence was estimated to be Eswarakumar et al. Expression of the CY mutation in cis with the LA and RA mutations of the juxtamembrane domain resulted in attenuation of signaling pathways by selective uncoupling between the docking protein Frs2a and activated Fgfr2c, thus preventing premature fusion of sutures and resulting in normal skull development.
On the basis of an affected brother and sister with unaffected nonconsanguineous parents, Juberg and Chambers suggested the existence of a recessive form of Crouzon disease. Franceschetti described a seemingly distinct disorder under the designation cranial dysostosis with pronounced digital impressions, or 'pseudo-Crouzon disease. According to Franceschetti's appraisal, in Crouzon disease and pseudo-Crouzon disease, the pronounced digital impressions, or convolutional markings, are identical, and the essential difference is in the face: in pseudo-Crouzon disease, there is no prognathism, the nose is not curved, and divergent squint is usually lacking.
Prominent forehead and some degree of exophthalmos are features. Franceschetti proposed that Walsh described a case of pseudo-Crouzon disease as Crouzon disease. None of Franceschetti's cases was familial, but Dolivo and Gillieron described affected brother and sister whose mother, grandmother, and great-grandmother were said to have oxycephaly. Bagheri-Fam, S. Charnas, L.
Crouzon syndrome: evidence of incomplete penetrance Abstract Am. Cinalli, G. Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture. Cohen, M. Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods. Cohen, S. Insidious onset of familial craniosynostosis. Cleft Palate Craniofac. Crouzon, O. Dysostose cranio-faciale hereditaire.
Paris , Devine, P. Completely cartilaginous trachea in a child with Crouzon syndrome. Dodge, H. Craniofacial dysostosis: Crouzon's disease.
Pediatrics , Dolivo, G. Une famille de pseudo-Crouzon. Eswarakumar, V. Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis.
Flippen, J. Cranio-facial dysostosis of Crouzon: report of a case in which the malformation occurred in four generations. Pediatrics 5: , Fogh-Andersen, P. Craniofacial dysostosis Crouzon's disease as a dominant hereditary affection. Franceschetti, A. Dysostose cranienne avec calotte cerebriforme pseudo-Crouzon.
Cranial dysostosis with pronounced digital impressions pseudo-Crouzon dysostosis. In: Beard, C. Louis: C. Mosby pub. Glaser, R. Goriely, A. Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: implications for genetic testing in 'paternal age-effect' syndromes. Gorlin, R. Personal Communication.
Minneapolis, Minn. Jabs, E. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
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Crouzon syndrome is rare disorder characterized by premature craniosynostoses. It carries an autosomal dominant inheritance due to a mutation in fibroblast growth factor receptor 2 FGFR2 gene on chromosome 10q Please Note: You can also scroll through stacks with your mouse wheel or the keyboard arrow keys. Updating… Please wait. Unable to process the form.
Crouzon syndrome: factors related to the neuropsychological development and to the quality of life. Crouzon syndrome is characterized by cranial and facial abnormalities and exophtalmos. Mental retardation is sometimes observed. The objective of this study was to correlate brain malformations, timing for surgery and also social classification of families and parents education to the neuropsychological evaluation and to the quality of life of these families. Eleven patients with Crouzon syndrome were studied, whose ages were between 16 and months. Mental development was not correlated to brain malformation, neither to the age at time of operation or to the level of family environment and parents education.