Results 71 to 80 of about 12,301 (210)

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +1 more source

Anterograde endotracheal intubation with a laryngeal mask airway and guidewire in an infant with micrognathia [PDF]

, 2003
Tracheal intubation through a laryngeal mask airway is an alternative to secure the ventilation in patients with difficult airway. Different techniques have been described to intubate these patients.
Saruhan Cekirge, Ulkü Aypar, Altan Sahin   +2 more
core   +2 more sources

High Health Care Utilization Preceding Diagnosis With Juvenile Idiopathic Arthritis

Arthritis Care &Research, Volume 78, Issue 10, Page 1544-1551, October 2026.
Objective Although early diagnosis improves long‐term outcomes, patients with juvenile idiopathic arthritis (JIA) often experience prolonged, circuitous paths to diagnosis. To inform diagnostic improvement, we sought to characterize health care utilization in the year preceding diagnosis. Methods We identified 10,021 patients with an incident diagnosis
Anna Costello, Rui Xiao, Xuemei Zhang, Jahan Jazayeri, Irit R. Rasooly, Pamela F. Weiss   +5 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.

, 2003
Cleft palate is a common birth defect, but its etiopathogenesis is mostly unknown. Several studies have shown that cleft palate has a strong genetic component.
Kääriäinen, Helena, Rautio, Jorma, Ala-Kokko, Leena, Melkoniemi, Miia, Pihlajamaa, Tero, Männikkö, Minna, Hukki, Jyri, Cisneros, George J, Stofko, Joseph A, Koillinen, Hannele, Warman, Matthew L, Cohn, Daniel H, Krakow, Deborah, Kere, Juha   +13 more
core   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Thoracoabdominal Asynchrony in Healthy Children

Journal of Sleep Research, Volume 35, Issue 5, October 2026.
ABSTRACT Measuring asynchrony between the thorax and abdomen during sleep provides information about inspiratory effort and upper airway obstruction in children, aiding in the diagnosis of obstructive sleep apnea (OSA). This study aimed to define a normative range for thoracoabdominal asynchrony (TAA) in healthy children by studying polysomnographies ...
Kristjan Dereksson, Sigrun Helga Lund, Agneta Markström, Sigridur Sigurdardottir, Erna Sif Arnardottir, Michael V. Clausen, Sigurveig T. Sigurdardottir, Tryggvi Helgason, Erik A. Eklund   +8 more
wiley   +1 more source

Treatment of Micrognathia by Distraction Osteogenesis: A Prospective study [PDF]

, 2015
BACKGROUND: Maxillofacial deformities are always psychologically and physically distressing to the patients and is also challenging to the treating surgeons. The term Micrognathia verbally means a “small jaw”.
Gidean Arularasan, S
core  

Identical twins with Pierre Robin syndrome; unusual encounter

Electronic Physician, 2017
New born babies could suffer from multiple craniofacial abnormalities, such as Pierre Robin syndrome, which consists of micrognathia and relative macroglossia with or without cleft palate. Although Pierre Robin syndrome is well described in literature,
Nabil Shdaifat, Zaid al-Zoubi, Hazem Khraisat, Rana Al-Omor, Khaled Matar   +4 more
doaj   +1 more source

Fetal tongue posture associated with micrognathia: An ultrasound marker of cleft secondary palate?

, 2020
Cleft lip and cleft palate (CP) are the most common facial malformations. Two-dimensional (2D) ultrasound (US) is the first-line examination in the prenatal diagnosis of CP.
Manganaro L., Boccherini C., Giancotti A., D'Ambrosio V., Piccioni M. G., Vena F., Pizzuti A., Cascone P., Benedetti Panici P.   +8 more
core   +1 more source