Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods

Mm, Cohen; Kreiborg, Sven

doi:10.1111/j.1399-0004.1992.tb03620.x

Cited by 165 publications

(66 citation statements)

References 12 publications

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“…Majority of our patients hailed from a rural area which corresponds to data collected from various similar studies conducted in India. 4 Consanguineous marriage is a known risk factor 5 for craniofacial anomalies and in our study out of 151 patients, 14 patients had positive history of consanguineous marriage. This indicates towards the importance of conducting health awareness programs and educating general population about harmful effects of consanguineous marriage especially in rural areas.…”

Section: Resultsmentioning

confidence: 99%

Ocular Manifestation in Patients With Craniofacial Anomalies - A Hospital Based Study

M¹,

Shetty²,

Pai³

2016

jemds

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BACKGROUND Ocular manifestations in Children with Craniofacial Anomalies are an important but easily overlooked part as the patient and his family tends to be more focused on the more visible cosmetic disfigurement. The disfigurement while may be corrected in the hands of a competent surgeon at a later date, more lasting harm may be done to the patient's well-being if simple correctable refractive or other ocular conditions are left too late. This study was done to detect ocular involvement in patients with craniofacial anomalies and also to emphasise importance of routine ophthalmic examination in these patients. MATERIALS AND METHODSThis was a cross-sectional observational type of study. Study duration was dated from dated from November 2012 to October 2014. All patients who presented to the Department of Ophthalmology of Justice KS Hegde Medical College Hospital, Mangalore with craniofacial anomalies were included in this study. All patients with CFA were included in the study irrespective of age of presentation, gender or history of previous corrective surgery. The patients were evaluated at the time of presenting to the Department of Ophthalmology of Justice KS Hegde Medical College, Mangalore. Duration of this study was dated from November 2012 to October 2014. RESULTSOut of the 151 patients screened, 47.68 % (n=72) of the patients had one or the other forms of ocular anomalies. Patients with craniosynostosis had 100% ocular involvement (n=39). In patients with clefting syndrome, 29.46% of the patients had ocular involvement (n=33). Refractive error was most common ocular anomaly detected in our study. 49.01% of the patients in our study had refractive error out of which 22.51% of the patients were hypermetropes. CONCLUSIONFindings in our study suggest that there are numerous ocular associations in patients with craniofacial anomalies. A routine ophthalmic evaluation would help in early diagnosis of these ocular conditions and early management which would greatly benefit the patient.

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Section: Resultsmentioning

confidence: 99%

Ocular Manifestation in Patients With Craniofacial Anomalies - A Hospital Based Study

M¹,

Shetty²,

Pai³

2016

jemds

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“…Acanthosis nigricans is the main dermatological manifestation in 5% cases of Crouzon syndrome. 4 Radiographs, MRI scans, genetic testing and X rays can be used to confirm the diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Crouzon syndrome: a case report

Singh

Malik

Kaur

2017

Int J Contemp Pediatr

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Crouzon syndrome is an example of syndromes caused by premature obliteration and ossification of two or more sutures, most commonly coronal and sagittal. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon syndrome is caused by mutation in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. This disorder is characterized by distinctive malformations of skull and face (craniofacial region). Premature cranial suture closure is the most common skull abnormality. The case of an 8-month-old boy with Crouzon syndrome which is one of syndromes associated with synostosis, is presented. He presented in OPD with a cranial deformity, maxillary hypoplasia and exophthalmos. The clinical, characteristic radiological features and investigations carried out, along with treatment of this patient are discussed as part of multidisciplinary management.

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“…2,53 The characteristics of craniofacial malformations caused by various genetic syndromes are well documented. 2,5,14,32 On the other hand, the deviations in cervicovertebral morphology in patients with cleidocranial dysplasia, Crouzon and Treacher-Collins syndromes are poorly reported. 54,55 In this regard, the aim of the study was to review available literature on this topic and to present the characteristics of craniofacial and cervicovertebral morphology in three patients with different genetic syndromes.…”

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confidence: 99%

“…4 Half of the cases are sporadic, and the other half are autosomal dominant with complete penetrance and variable expression. 5 Its incidence is currently estimated to occur in 16.5 out of every 1,000,000 people. 6 CS has no racial or sex predilection and these patients are typically of normal intelligence.…”

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confidence: 99%

The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes: A literature review and three case reports

Lazic¹,

Jakovljević²,

Nikodijević-Latinović³

et al. 2016

SEJODR

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Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods

Cited by 165 publications

References 12 publications

Ocular Manifestation in Patients With Craniofacial Anomalies - A Hospital Based Study

Ocular Manifestation in Patients With Craniofacial Anomalies - A Hospital Based Study

Crouzon syndrome: a case report

The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes: A literature review and three case reports

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