Feeding difficulties in children with esophageal atresia: A parent‐reported multicenter study
Abstract Objective Feeding difficulties (FDs) are common among children with esophageal atresia (EA) and tracheoesophageal fistula (TEF), but knowledge about their prevalence and risk factors is limited. This multicenter study aimed to assess the prevalence, subtypes, and associated factors of FD in children with EA/TEF. Methods Parents of children who
Tut Galai +7 more
wiley +1 more source
Splenogonadal fusion in a female: A case report of a rare congenital anomaly. [PDF]
Mohamed SEMK +4 more
europepmc +1 more source
Abstract Objective To evaluate neurodevelopment at 24 months in infants surgically treated for esophageal atresia (EA), using the ages and stages questionnaire (ASQ), and identify perinatal and early‐life factors associated with developmental delay. Methods Infants with EA were prospectively enrolled in a structured multidisciplinary follow‐up program.
Julia Tagmouti +8 more
wiley +1 more source
Nevus Sebaceus: A Cross‐Specialty Survey of Clinical Management in Ireland
ABSTRACT Background Nevus sebaceus (NS) is a congenital benign hamartomatous malformation typically appearing on the scalp and face as a yellow/orange hairless plaque. Benign secondary tumours can develop but malignant transformation is exceptionally rare.
B. Nolan, M. Murphy, C. O'Connor
wiley +1 more source
Enigmatic thymus: Variations in anatomical localisation of thymic tissue as an easily misdiagnosed congenital anomaly in surgical practice. [PDF]
Mayer A, Voller J, Varga I.
europepmc +1 more source
Current Evidence of the Effect of Breastfeeding on Ear Molding Outcomes: A Scoping Review
ABSTRACT Objective To provide an overview on auricular molding and to investigate whether breastfeeding is associated with greater cartilage malleability or improved perinatal auricular molding outcomes. Data Sources Embase, MEDLINE, and CENTRAL databases.
Harry Chiang +5 more
wiley +1 more source
Characterizing Secondary Velopharyngeal Surgery in Children With Cleft Palate at an Academic Center
In this retrospective study of children undergoing primary palatoplasty at a single academic institution, 10.8% required secondary surgery for velopharyngeal insufficiency. Multivariate analysis demonstrated that private insurance was associated with decreased odds of secondary surgery, while Asian race was associated with increased odds.
Lauren E. Williamson +5 more
wiley +1 more source
Diagnostic Yield of Trio Whole-Genome Sequencing in Children with Undiagnosed Developmental Delay or Congenital Anomaly: A Prospective Cohort Study. [PDF]
Kim J, Lee J, Kim M, Jang DH.
europepmc +1 more source
Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal +3 more
wiley +1 more source
ABSTRACT Background Several studies show that large language models (LLMs) struggle with phenotype‐driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models such as GPT and LLaMA to predict candidate genes.
Zhanliang Wang +3 more
wiley +1 more source

