Crouzons syndrome: A case report with review of literature

Tanwar, R. K.; Iyengar, Asha R; Nagesh, K.; Subhash, B.V

doi:10.4103/0970-4388.115716

Cited by 9 publications

(7 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The syndrome has been initially described by Smith et al ( 1964 ). DHCR7 is an enzyme for the biosynthesis of cholesterol of which over 160 different mutations have been described, and the severity of the physical effects of the mutations correlates with the severity of the cholesterol deficiency (Tint et al, 1995 ; Tanwar et al, 2013 ) leading to the syndrome with a variable phenotype severity (Saher and Stumpf, 2015 ). SLOS therefore constitutes a clinical and biochemical continuum.…”

Section: Resultsmentioning

confidence: 99%

Update on 13 Syndromes Affecting Craniofacial and Dental Structures

Bartzela¹,

Carels²,

Maltha³

2017

Front. Physiol.

View full text Add to dashboard Cite

Care of individuals with syndromes affecting craniofacial and dental structures are mostly treated by an interdisciplinary team from early childhood on. In addition to medical and dental specialists that have a vivid interest in these syndromes and for whom these syndromes are of evident interest, experts of scientific background—like molecular and developmental geneticists, but also computational biologists and bioinformaticians—, become more frequently involved in the refined diagnostic and etiological processes of these patients. Early diagnosis is often crucial for the effective treatment of functional and developmental aspects. However, not all syndromes can be clinically identified early, especially in cases of absence of known family history. Moreover, the treatment of these patients is often complicated because of insufficient medical knowledge, and because of the dental and craniofacial developmental variations. The role of the team is crucial for the prevention, proper function, and craniofacial development which is often combined with orthognathic surgery. Although the existing literature does not provide considerable insight into this topic, this descriptive review aims to provide tools for the interdisciplinary team by giving an update on the genetics and general features, and the oral and craniofacial manifestations for early diagnosis. Clinical phenotyping together with genetic data and pathway information will ultimately pave the way for preventive strategies and therapeutic options in the future. This will improve the prognosis for better functional and aesthetic outcome for these patients and lead to a better quality of life, not only for the patients themselves but also for their families. The aim of this review is to promote interdisciplinary interaction and mutual understanding among all specialists involved in the diagnosis and therapeutic guidance of patients with these syndromal conditions in order to provide optimal personalized care in an integrated approach.

show abstract

Section: Resultsmentioning

confidence: 99%

Update on 13 Syndromes Affecting Craniofacial and Dental Structures

Bartzela¹,

Carels²,

Maltha³

2017

Front. Physiol.

View full text Add to dashboard Cite

show abstract

“…This relative position for both hard and soft palate with respect to increased airorhynchy supports the view that CM‐P and SM‐S involve early embryological changes in the pervasive osseous reduction associated with para‐axial mesodermal insufficiency associated with CMSM and craniosynostosis that have already shown to exist with human CM/SM . Crouzon syndrome, in particular, affects both the bones of the midface and cervical spine . Such oropharyngeal changes in CM‐P and SM‐S dogs might well compromise CSF circulation in the skull both rostrally and caudally simultaneously causing disruption and could contribute to BOAS/sleep disordered breathing …”

Section: Discussionmentioning

confidence: 99%

Facial changes related to brachycephaly in Cavalier King Charles Spaniels with Chiari‐like malformation associated pain and secondary syringomyelia

Knowler¹,

Dumas²,

Spiteri

et al. 2019

Veterinary Internal Medicne

View full text Add to dashboard Cite

Background: Recent studies including an innovative machine learning technique indicated Chiari-like malformation (CM) is influenced by brachycephalic features. Objectives: Morphometric analysis of facial anatomy and dysmorphia in CMassociated pain (CM-P) and syringomyelia (SM) in the Cavalier King Charles Spaniel (CKCS). Animals: Sixty-six client-owned CKCS. Methods: Retrospective study of anonymized T2W sagittal magnetic resonance imaging of 3 clinical groups: (1) 11 without central canal dilation (ccd) or SM (CM-N), (2) 15 with CM-P with no SM or <2 mm ccd (CM-P), and (3) 40 with syrinx width ≥4 mm (SM-S). Morphometric analysis assessed rostral skull flattening and position of the hard and soft palate relative to the cranial base in each clinical group and compared CKCS with and without SM-S.Results: Sixteen of 28 measured variables were associated to SM-S compared to CM-N and CM-P. Of these 6 were common to both groups. Predictive variables determined by discriminant analysis were (1) the ratio of cranial height with cranial length (P < .001 between SM-S and CM-N) and (2) the distance between the cerebrum and the frontal bone (P < .001 between SM-S and CM-P). CM-P had the lowest mean height of the maxillary area. Conclusions and ClinicalImportance: CKCS with CM-P and SM-S have cranial brachycephaly with osseous insufficiency in the skull with rostral flattening and increased proximity of the hard and soft palate to the cranial base. Changes are greatest with CM-P. These findings have relevance for understanding disease pathogenesis and for selection of head conformation for breeding purposes. dogs without central canal dilation or syringomyelia with no clinical or behavioural signs of pain; CM-P, dogs with clinical and behavioral signs of pain with no syringomyelia or with a central canal dilation less than 2 mm wide; CSF, cerebrospinal fluid; DA, discriminant function analysis; DICOM, Digital Imaging and Communications in Medicine; FS, feature selection; ICC, intraclass correlation coefficient; ML, machine learning; MRI, magnetic resonance imaging; SM, syringomyelia; SM-S, dogs with syrinx width ≥4 mm and with SM specific signs of phantom scratching, scoliosis, paresis or proprioceptive deficits.

show abstract

“…1,2 Characteristics of patients with Crouzon syndrome, which was first described by French neurologist, Octave Crouzon in 1912, include features such as skull deformities, facial anomalies, and exophthalmos. 3,4 Imaging has been found to be beneficial in the early diagnosis of Crouzon syndrome. 5 Hypercementosis, the excessive formation of cementum above what is deemed normal, has been documented in a case of Crouzon syndrome in a 35-yearold female.…”

Section: E T T E R T O T H E E D I T O R Hypercementosis Development In a Patient With Crouzon Syndromementioning

confidence: 99%