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Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement. [PDF]

open access: yesClin Case Rep
ABSTRACT We report a female infant with cardiofaciocutaneous syndrome type 4 (CFC4), an ultra‐rare RASopathy caused by a heterozygous MAP2K2 (c.619G>A, p.Glu207Lys) variant. From birth, she presented with neonatal hypotonia, respiratory distress, and feeding dysfunction characterized by absent sucking reflex, orofacial hypotonia, and sensory ...
Świeca A   +3 more
europepmc   +2 more sources

Macroglossia

open access: yesInternational Dental Journal, 2011
Macroglossia is defined as an enlarged tongue and it is usually clinically diagnosed. Pseudomacryglossia concerns a tongue that is of normal size but gives a false impression of being too large in relation to adjacent anatomical structures. The causes of macroglossia are numerous and this is why various classifications have been proposed for this ...
Nikolaos, Topouzelis   +2 more
  +5 more sources

Macroglossia: Clinical considerations

open access: yesInternational Journal of Orofacial Myology, 1989
Summary. Macroglossia is a multifactorial condition that is almost always associated with a space-occupying mass of the tongue. The usual treatment is surgical resection. The typical medical conditions that lead to macroglossia have been described.
E A, Dolan, J E, Riski, R M, Mason
openaire   +3 more sources

A phenomap of TTR amyloidosis to aid diagnostic screening

open access: yesESC Heart Failure, Volume 12, Issue 2, Page 1113-1118, April 2025.
Abstract Cardiac amyloidosis due to transthyretin (ATTR) remains an underdiagnosed cause of cardiomyopathy. As awareness of the disease grows and referrals for ATTR increase, clinicians are likely to encounter more atypical forms of the condition in clinical practice.
Alexios S. Antonopoulos   +4 more
wiley   +1 more source

Transoral Robotic Lingual Tonsillectomy for Pediatric Obstructive Sleep Apnea

open access: yesThe Laryngoscope, EarlyView.
ABSTRACT Objectives Our objective was to investigate the safety and efficacy of transoral robotic surgery (TORS) lingual tonsillectomy (LT) with and without epiglottopexy and to compare it with non‐robotic approaches for children with obstructive sleep apnea (OSA).
Daniel J. Campbell   +4 more
wiley   +1 more source

Case reports of oral appliance therapy on three young adults with Down syndrome and OSA

open access: yesJournal of Prosthodontics, EarlyView.
Abstract Patients with Down syndrome (DS) have a high incidence of obstructive sleep apnea (OSA) due to hypotonia, weight, underdeveloped midface, and relative macroglossia. This article presents three cases of young adults with DS, who were diagnosed with mild to severe OSA and unable to tolerate positive airway pressure therapy.
Jingjing Zhang   +3 more
wiley   +1 more source

Facial Patterns and Obstructive Sleep Apnea in Children Seeking for Orthodontic Treatment: Data From 3671 Polysomnographic Recordings

open access: yesOrthodontics &Craniofacial Research, EarlyView.
ABSTRACT Aim To evaluate the association between vertical and sagittal facial profile characteristics and the diagnosis/severity of Obstructive Sleep Apnea (OSA) based on hospital‐based polysomnography (PSG) in children attending their first orthodontic visit.
Derek Mahony   +7 more
wiley   +1 more source

Utilization and Prognosis of Cardiac Device Implantation in AL Versus ATTR Amyloidosis

open access: yesPacing and Clinical Electrophysiology, EarlyView.
ABSTRACT Introduction Cardiac amyloidosis can cause congestive heart failure, arrhythmias, and heart blocks, which frequently require cardiac device implantation (CDI). However, the differences between light chain (AL) amyloidosis and transthyretin (ATTR) amyloidosis CDI requirements are unknown. Methods A retrospective analysis was conducted using the
Bilal Hussain   +7 more
wiley   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 728-732, March 2026.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates   +6 more
wiley   +1 more source

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