ALLMedicine Macroglossia Center

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...

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 ...

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...

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...

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...

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...

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 ...

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...

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...

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...

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...