Solitary median maxillary central incisor (SMMCI) coexists in 34%-65% of patients initially diagnosed with congenital nasal pyriform aperture stenosis. SMMCI, a genetic syndrome, warrants consideration for further screening because of its high prevalence of other diagnostic possibilities-specifically central defects, like nasal obstruction and hypothalamo-pituitary axis abnormalities. We report on a presentation of SMMCI with congenital nasal pyriform aperture stenosis which highlights the unique radiologic features and notes the relationship between these two central associated findings in the literature.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4996930 | PMC |
| http://dx.doi.org/10.1016/j.radcr.2016.06.004 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Supraglottoplasty outcomes and peri-operative care in congenital laryngomalacia.
Eur Arch Otorhinolaryngol
January 2025
Department of Otolaryngology, Robert Debre Hospital, Assistance Publique Hôpitaux de Paris (APHP) and Paris University, 48, Boulevard Sérurier, 75019, Paris, France.
Objectives: This study aimed to identify factors predicting postoperative ICU admission, the need for orotracheal intubation (OTI), and the occurrence of supraglottic stenosis in children undergoing supraglottoplasty for laryngomalacia.
Methods: A retrospective analysis was conducted on 31 children (Dear Reviewer, we would have greatly preferred to include a larger sample size. However, as you know, this type of management is rare, and we deliberately selected a 7-year period to ensure a minimum of 30 children while avoiding significant differences in management guidelines over time.
"Cross-Sectional Analysis of Insurance Coverage for Functional Septorhinoplasty in the United States".
Plast Reconstr Surg
January 2025
Section of Plastic Surgery, University of Michigan.
Background: The benefits and cost-effectiveness of functional septorhinoplasty have been previously demonstrated. However, reimbursement for functional septorhinoplasty by health insurance companies remains inconsistent. The purpose of this study is to define the current state of insurance coverage for functional septorhinoplasty.
View Article and Find Full Text PDFA family with an atypical presentation of TBX3-related disorder.
Eur J Med Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, The Technion, Haifa, Israel. Electronic address:
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.
View Article and Find Full Text PDFExploring the landscape of congenital and idiopathic neutropenia in Moroccan children: a comprehensive retrospective analysis.
Immunol Res
January 2025
Laboratory of Clinical Immunology, Infectiology, and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco.
Congenital neutropenia (CoN) is a heterogeneous group of inborn errors of immunity (IEI) characterized by recurrent infections and early onset of neutropenia (NP). This study aimed to investigate the demographic and clinical data of children with CoN and idiopathic neutropenia (IN) in Morocco. We performed a retrospective study of patients with CoN and analyzed the clinical and laboratory findings of patients with CoN and IN diagnosed between 1999 and 2018 in a clinical immunology unit of a large pediatric hospital.
View Article and Find Full Text PDF[Genetic analysis of a Chinese pedigree with rare mosaic 11q partial duplication and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Obstetrics and Gynecology, the Affiliated Hospital of Nantong University, Nantong, Jiangsu 226001, China.
Objective: To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms.
Methods: A pedigree which underwent prenatal diagnosis at Wenzhou Central Hospital between September 25, 2015 and November 30, 2023 was selected for the study. Clinical data were collected from the pedigree.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!