The purpose of this paper is to discuss a rare case of bilateral congenital mucous extravasation phenomenon on buccal mucosa near commissure of mouth. The lesions were noted at birth, subsequently enlarged to interfere with feeding. The lesion frequently ruptured, regressed, and again enlarged to interfere with normal function. The lesions were surgically removed under general anesthesia at 11 months of age and the diagnosis was confirmed by histopathological examination. Postoperative follow-up after 14 months showed no recurrence.
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BMJ Case Rep
January 2025
Audiovestibular Medicine, St George's Hospital, London, UK.
A toddler presented to audiovestibular medicine with mild bilateral, sensorineural hearing loss identified via the Newborn Hearing Screening Programme. This report focuses on the early clinical assessment and aetiological investigation which prompted testing for metabolic disease and highlights the parents' perspective. Early investigation led to a relatively early diagnosis of mucopolysaccharidosis (MPS) type IIIA: Sanfilippo disease which enabled the family to access a novel treatment option which otherwise would not have been possible.
View Article and Find Full Text PDFAm J Hum Genet
December 2024
Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A(∗)STAR, Singapore, Singapore; Laboratory of Human Genetics & Therapeutics, BESE, KAUST, Thuwal, Saudi Arabia; Department of Physiology, Cardiovascular Disease Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. Electronic address:
Four genes-DAND5, PKD1L1, MMP21, and CIROP-form a genetic module that has specifically evolved in vertebrate species that harbor motile cilia in their left-right organizer (LRO). We find here that CIROZ (previously known as C1orf127) is also specifically expressed in the LRO of mice, frogs, and fish, where it encodes a protein with a signal peptide followed by 3 zona pellucida N domains, consistent with extracellular localization. We report 16 individuals from 10 families with bi-allelic CIROZ inactivation variants, which cause heterotaxy with congenital heart defects.
View Article and Find Full Text PDFSpine Deform
January 2025
Division of Spine Surgery, Department of Orthopedic Surgery, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Zhongshan Road 321, Nanjing, 210008, China.
Purpose: This study is to conduct a retrospective review of the selective resection strategies, their immediate efficacy and prognosis, using double hemivertebrae (DHV) as illustrative cases.
Methods: A total of 59 adolescent and young adult patients with DHV were enrolled from 2009 to 2021. They were categorized into sagittal kyphosis group (SKG), coronal takeoff group (CTG) and balanced group (BG).
Arch Orthop Trauma Surg
January 2025
Abteilung für Plastische und Handchirurgie UniversitätsCentrum für Orthopädie, Unfall- & Plastische Chirurgie, Universitätsklinikum Carl Gustav Carus an der Technischen Universität Dresden, Dresden, Germany.
Background: Kirner deformity is a rare anomaly of the little finger in adolescents, characterized by a deformity of the distal phalanx and a radiologically L-shaped epiphysis, along with palmar and radial angulation of the distal phalanx. Due to the rarity of these pathological findings, there are no systematic literature reviews available. This work serves as an overview of the clinical presentation, frequency and age distributions, as well as possible conservative and surgical treatment options.
View Article and Find Full Text PDFOphthalmic Genet
January 2025
Department of Ophthalmology, Unidade de Saúde Local de São João, Porto, Portugal.
Purpose: We present the case of a newborn with right anophthalmia, left congenital cystic eye, and two novel variants in the gene. This report provides a comprehensive discussion of the clinical presentation, management strategies, and long-term follow-up for this rare condition.
Methods: A thorough ophthalmic examination was performed.
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