Ocular Phenotype Correlations in Patients with TWIST Versus FGFR3 Genetic Mutations

Jadico, Suzanne K.; Huebner, Alexandra; McDonald‐McGinn, Donna M.; Zackai, Elaine H.; Young, Terri L.

doi:10.1016/j.jaapos.2006.06.008

Cited by 35 publications

(22 citation statements)

References 43 publications

(53 reference statements)

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“…In a larger study of 141 patients with Crouzon, Pfeiffer, Apert, and Saethre–Chotzen syndromes, strabismus was present in 70% [Khan et al, ]. More specific to our cohort, Jadico et al studied 21 patients with either Saethre–Chotzen or Muenke syndromes and found that those with an FGFR3 mutation had strabismus present in 55% and amblyopia in 18% [Jadico et al, ].…”

Section: Discussionmentioning

confidence: 89%

Muenke syndrome: An international multicenter natural history study

Kruszka

Addissie

Yarnell

et al. 2016

American J of Med Genetics Pt A

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Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal, and calcaneal fusions, and behavioral differences. Reduced penetrance and variable expressivity contribute to the wide spectrum of clinical findings. Muenke syndrome constitutes the most common syndromic form of craniosynostosis, with an incidence of 1 in 30,000 births and is defined by the presence of the p.Pro250Arg mutation in FGFR3. Participants were recruited from international craniofacial surgery and genetic clinics. Affected individuals, parents, and their siblings, if available, were enrolled in the study if they had a p.Pro250Arg mutation in FGFR3. One hundred and six patients from 71 families participated in this study. In 51 informative probands, 33 cases (64.7%) were inherited. Eighty-five percent of the participants had craniosynostosis (16 of 103 did not have craniosynostosis), with 47.5% having bilateral and 28.2% with unilateral synostosis. Females and males were similarly affected with bicoronal craniosynostosis, 50% versus 44.4% (P ¼ 0.84), respectively. Clefting was rare (1.1%). Hearing loss was identified in 70.8%, developmental delay in 66.3%, intellectual disability in 35.6%, attention deficit/hyperactivity disorder in 23.7%, and seizures in 20.2%. In patients with complete skeletal surveys (upper and lower extremity x-rays), 75% of individuals were found to have at least a single abnormal radiographical finding in addition to skull findings. This is the largest study of the natural history of Muenke syndrome, adding valuable clinical information to the care of these individuals including behavioral and cognitive impairment data, vision changes, and hearing loss.

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Section: Discussionmentioning

confidence: 89%

Muenke syndrome: An international multicenter natural history study

Kruszka

Addissie

Yarnell

et al. 2016

American J of Med Genetics Pt A

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“…This screening and treatment is thus essential but cannot prevent or overcome all restrictions. Problems with vision affect about half the patients and can be due to refractive error, strabismus, astigmatism and persistent elevated intracranial pressure [2, 4, 10, 12]. Speech problems have previous been reported in Apert, Muenke and Saethre–Chotzen syndrome [6, 7, 17].…”

Section: Discussionmentioning

confidence: 99%

Health-related problems and quality of life in patients with syndromic and complex craniosynostosis

et al. 2012

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PurposeWe conducted this study to gauge the health-related problems, quality of life and the performance of the Health Utility Index Mark 3 (HUI-3) in patients with syndromic and complex craniosynostosis. Patients with syndromic and complex craniosynostosis have various physical and mental problems. More insight on these problems, per syndrome, could provide guidance to improve patient treatment and follow-up.MethodsA cross-sectional, comparative study on 131 patients and their parents was performed. Health-related quality of life was measured with the HUI-3 and the Visual Analogue Scale (VAS). All data were compared to a normative Dutch population. Vision, hearing and intelligence were objectively measured.ResultsThe HUI-3 and the VAS were significant lower compared to the normative Dutch population. All syndromes have a high prevalence of vision and speech problems. Cognitive problems were mainly reported in patients with Apert, Crouzon and Muenke syndrome. Ambulation and dexterity problems were seen in Apert, Crouzon, Saethre–Chotzen and complex craniosynostosis. Only patients with Apert syndrome scored significantly worse on pain. The HUI-3 had a medium to strong correlation with the objectively measured outcomes.ConclusionsThe overall quality of life is lower in patients with syndromic and complex craniosynostosis. To improve quality of life, more attention is needed for problems with vision and speech.

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“…Patients with TWIST gene mutations may have more ophthalmic abnormalities, including more strabismus, ptosis, and amblyopia. [6] The following discussion gives a comprehensive review of different disorders presenting with craniosynostosis, their diagnosis, and genetic counseling.…”

Section: Introductionmentioning

confidence: 99%

Craniosynostosis genetics: The mystery unfolds

Panigrahi¹

2011

Indian J Hum Genet

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Craniosynsostosis syndromes exhibit considerable phenotypic and genetic heterogeneity. Sagittal synostosis is common form of isolated craniosynostosis. The sutures involved, the shape of the skull and associated malformations give a clue to the specific diagnosis. Crouzon syndrome is one of the most common of the craniosynostosis syndromes. Apert syndrome accounts for 4.5% of all craniosynostoses and is one of the most serious of these syndromes. Most syndromic craniosynostosis require multidisciplinary management. The following review provides a brief appraisal of the various genes involved in craniosynostosis syndromes, and an approach to diagnosis and genetic counseling.

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Ocular Phenotype Correlations in Patients with TWIST Versus FGFR3 Genetic Mutations

Cited by 35 publications

References 43 publications

Muenke syndrome: An international multicenter natural history study

Muenke syndrome: An international multicenter natural history study

Health-related problems and quality of life in patients with syndromic and complex craniosynostosis

Craniosynostosis genetics: The mystery unfolds

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