Identical Twins with Crouzon Syndrome: Eight-Year Follow-up, Genetic Considerations, and Operative Management

Trost, Jeffrey G.; Khechoyan, David Y.; Hollier, Larry H.; Buchanan, Edward P.

doi:10.1055/s-0036-1592091

Cited by 2 publications

(1 citation statement)

References 19 publications

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“…Midfacial advancement with a Le Fort III, Le Fort II plus zygomatic repositioning, monobloc, or facial bipartition is required for midface retrusion[ 30 ]. The appropriate time of surgery is deemed at 8 years of age[ 31 ]. He has been referred to the Department of Oral and Maxillofacial Surgery for orthognathic surgical procedures in the next few years.…”

Section: Discussionmentioning

confidence: 99%

Crouzon syndrome in a fraternal twin: A case report and review of the literature

Li¹,

Su²,

Ye³

2022

WJCC

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BACKGROUND Crouzon syndrome (CS; OMIM 123500) is an autosomal dominant inherited craniofacial disorder caused by mutations in the fibroblast growth factor receptor 2 ( FGFR2 ) gene. CS is characterized by craniofacial dysostosis, exophthalmos, and facial anomalies with hypoplastic maxilla and relative mandibular prognathism. CASE SUMMARY Our report involves a 6-year-old fraternal twin boy with many caries in the oral cavity who presented with characteristic features of CS based on clinical and radiographic examinations along with Sanger sequencing. The fraternal girl did not show any abnormalities indicating CS. Carious teeth and poor oral hygiene were managed promptly through administering appropriate behavior guidance, orthodontic treatment was planned, and preventive procedures were described. CONCLUSION CS could occur in a fraternal twin caused by a de novo mutation of the FGFR2 gene. Oral hygiene instruction, preventive programs on oral hygiene, orthodontic treatment, and maxillary osteotomy were required for treatment.

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Section: Discussionmentioning

confidence: 99%

Crouzon syndrome in a fraternal twin: A case report and review of the literature

Li¹,

Su²,

Ye³

2022

WJCC

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The Spectrum of Mutations of Homocystinuria in the MENA Region

Al-Sadeq

Nasrallah

2020

Genes

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Homocystinuria is an inborn error of metabolism due to the deficiency in cystathionine beta-synthase (CBS) enzyme activity. It leads to the elevation of both homocysteine and methionine levels in the blood and urine. Consequently, this build-up could lead to several complications such as nearsightedness, dislocated eye lenses, a variety of psychiatric and behavioral disorders, as well as vascular system complications. The prevalence of homocystinuria is around 1/200,000 births worldwide. However, its prevalence in the Gulf region, notably Qatar, is exceptionally high and reached 1:1800. To date, more than 191 pathogenic CBS mutations have been documented. The majority of these mutations were identified in Caucasians of European ancestry, whereas only a few mutations from African-Americans or Asians were reported. Approximately 87% of all CBS mutations are missense and do not target the CBS catalytic site, but rather result in unstable misfolded proteins lacking the normal biological function, designating them for degradation. The early detection of homocystinuria along with low protein and methionine-restricted diet is the best treatment approach for all types of homocystinuria patients. Yet, less than 50% of affected individuals show a significant reduction in plasma homocysteine levels after treatment. Patients who fail to lower the elevated homocysteine levels, through high protein-restricted diet or by B6 and folic acid supplements, are at higher risk for cardiovascular diseases, neurodegenerative diseases, neural tube defects, and other severe clinical complications. This review aims to examine the mutations spectrum of the CBS gene, the disease management, as well as the current and potential treatment approaches with a greater emphasis on studies reported in the Middle East and North Africa (MENA) region.

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Identical Twins with Crouzon Syndrome: Eight-Year Follow-up, Genetic Considerations, and Operative Management

Cited by 2 publications

References 19 publications

Crouzon syndrome in a fraternal twin: A case report and review of the literature

Crouzon syndrome in a fraternal twin: A case report and review of the literature

The Spectrum of Mutations of Homocystinuria in the MENA Region

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