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About 721 results

ALLMedicine Macroglossia Center

Research & Reviews  359 results

An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, inte...
https://doi.org/10.1002/ajmg.a.61619
American Journal of Medical Genetics. Part A REFERENCES; Stinson JL, Brault JA et. al.

May 18th, 2020 - We report on a 26-year-old male with extreme short stature, microcephaly, macroglossia, other dysmorphic features, severe intellectual disability, and a bone dysplasia. The patient had an extensive genetic and biochemical evaluation that was all n...

Imaging features of mucopolysaccharidoses in the head and neck.
https://doi.org/10.1016/j.ijporl.2020.110022
International Journal of Pediatric Otorhinolaryngology; Nicolas-Jilwan M

Apr 6th, 2020 - Ear, Nose and Throat (ENT) involvement by mucopolysaccharidoses is very common, affecting over 90% of patients, and occurs early in the course of the disease. Airway narrowing secondary to glycosaminoglycan deposition results in greatly increased ...

The Utility of Early Tongue Reduction Surgery for Macroglossia in Beckwith-Wiedemann Sy...
https://doi.org/10.1097/PRS.0000000000006673
Plastic and Reconstructive Surgery; Cohen JL, Cielo CM et. al.

Mar 29th, 2020 - Macroglossia, a cardinal feature of the (epi)genetic disorder Beckwith-Wiedemann syndrome, is associated with obstructive sleep apnea, speech and/or feeding difficulties, and dental or jaw malalignment. These sequelae may be treated and/or prevent...

Alternative Transoral Application of Nasopharyngeal Airways.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7083124
Anesthesia Progress; Matsui R, Wong M et. al.

Mar 19th, 2020 - Transoral application of a nasopharyngeal airway (NPA) is a novel technique for difficult airway management. Clinically, it is an effective alternative for use in nonintubated dental cases under total intravenous anesthesia. This technique can hel...

Kagami-Ogata syndrome: an important differential diagnosis to Beckwith-Wiedemann syndrome.
https://doi.org/10.1002/jcu.22815
Journal of Clinical Ultrasound : JCU REFERENCES; Altmann J, Horn D et. al.

Jan 29th, 2020 - We report the case of a fetus with sonographic characteristics of Beckwith-Wiedemann syndrome (BWS). A 30-year-old gravida 2 para 1 was referred to our fetal medicine unit with an omphalocele. Fetal macrosomia, organomegaly, and polyhydramnios but...

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Clinicaltrials.gov  361 results

An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, inte...
https://doi.org/10.1002/ajmg.a.61619
American Journal of Medical Genetics. Part A REFERENCES; Stinson JL, Brault JA et. al.

May 18th, 2020 - We report on a 26-year-old male with extreme short stature, microcephaly, macroglossia, other dysmorphic features, severe intellectual disability, and a bone dysplasia. The patient had an extensive genetic and biochemical evaluation that was all n...

Imaging features of mucopolysaccharidoses in the head and neck.
https://doi.org/10.1016/j.ijporl.2020.110022
International Journal of Pediatric Otorhinolaryngology; Nicolas-Jilwan M

Apr 6th, 2020 - Ear, Nose and Throat (ENT) involvement by mucopolysaccharidoses is very common, affecting over 90% of patients, and occurs early in the course of the disease. Airway narrowing secondary to glycosaminoglycan deposition results in greatly increased ...

The Utility of Early Tongue Reduction Surgery for Macroglossia in Beckwith-Wiedemann Sy...
https://doi.org/10.1097/PRS.0000000000006673
Plastic and Reconstructive Surgery; Cohen JL, Cielo CM et. al.

Mar 29th, 2020 - Macroglossia, a cardinal feature of the (epi)genetic disorder Beckwith-Wiedemann syndrome, is associated with obstructive sleep apnea, speech and/or feeding difficulties, and dental or jaw malalignment. These sequelae may be treated and/or prevent...

Alternative Transoral Application of Nasopharyngeal Airways.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7083124
Anesthesia Progress; Matsui R, Wong M et. al.

Mar 19th, 2020 - Transoral application of a nasopharyngeal airway (NPA) is a novel technique for difficult airway management. Clinically, it is an effective alternative for use in nonintubated dental cases under total intravenous anesthesia. This technique can hel...

Kagami-Ogata syndrome: an important differential diagnosis to Beckwith-Wiedemann syndrome.
https://doi.org/10.1002/jcu.22815
Journal of Clinical Ultrasound : JCU REFERENCES; Altmann J, Horn D et. al.

Jan 29th, 2020 - We report the case of a fetus with sonographic characteristics of Beckwith-Wiedemann syndrome (BWS). A 30-year-old gravida 2 para 1 was referred to our fetal medicine unit with an omphalocele. Fetal macrosomia, organomegaly, and polyhydramnios but...

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News  1 results

Beckwith-Wiedemann Syndrome Associated with Congenital Hypothyroidism in a Preterm Neonate: A Case Report and Literature Review
https://www.medscape.com/viewarticle/704839

Abstract and Case Report Abstract This report describes for the first time the association of Beckwith-Wiedemann syndrome (BWS) and hypothyroidism in a 25 weeks preterm neonate. Antenatal diagnosis of exomphalos in association with postnatal trans...

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