CROUZON SYNDROME
Victor A. McKusick, OMIM, Johns Hopkins University, April 17, 2007
 [for Professionals mainly]
Alternative titles; symbols
CRANIOFACIAL DYSOSTOSIS, TYPE I
CROUZON CRANIOFACIAL DYSOSTOSIS
PSEUDO - CROUZON SYNDROME
Gene Map Locus: 10q26
Crouzon syndrome is characterized by cranial synostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism. Familial occurrence was noted by Crouzon (1912) ... Shiller (1959 observed dominant transmission in 4 generations with 23 affected members ... marked variability in both cranial and facial manifestations of the syndrome ... Jones et al. (1975) found evidence of paternal age effect in new mutations for this disorder ... 11 different mutations in the 22 families ... Advanced paternal age was noted for the fathers of patients with Crouzon syndrome or Pfeiffer syndrome ...
... In a series of 68 patients ... Nineteen of these patients required treatment for progressive hydrocephalus and 72.7% of these patients had chronic tonsillar herniation ...
PIERRE ROBIN SYNDROME
Victor A. McKusick, OMIM, Johns Hopkins University, March 18, 2005
[for Professionals mainly]
Alternative titles; symbols
GLOSSOPTOSIS, MICROGNATHIA, AND CLEFT PALATE
PIERRE ROBIN SEQUENCE
Hand anomalies in Crouzon syndrome
P.J. Anderson, et al., Skeletal Radiology (1997) pp 113-115
Abstract ...
... Thirty-three patients underwent a total of 34 radiographs ... hands of Crouzon syndrome may have anomalies including carpal fusions, and these results are evidence that the condition may produce subtle effects on the hands ...
Crouzon Support Network
Crouzon Support Network, September 17, 2007
[Support Groups]
Organization for individuals and families who are dealing with Crouzon Syndrome and other craniofacial anomalies ...
Craniosynostosis
Children's Medical Center, Dallas, 2007
Crouzon syndrome
I.B.I.S. Birth Defects
[Ukrainian]
Fact Sheet in Ukrainian for specialists
Synonyms ... Main diagnostic criteria ... Clinical picture ... Differential diagnosis ... Etiology ... Pattern of inheritance ... Prenatal diagnosis ... Treatment ... OMIM number
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Last Updated: 2021/09/01
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