Congenital midline nasal anomalies are rare, with a prevalence of 1 in 20,000 to 40,000 births and with 5% to 7% of them being nasal glioma. Differential diagnoses of nasal anomalies include nasal dermoid cysts, gliomas, encephaloceles, nasal polyps, and some other rare anomalies. Due to current medical technological advancements, most of these anomalies are easily correctable, though delaying management may lead to fatal effects. This report describes two cases-one of nasal glioma and one of nevus lipomatosus cutaneous superficialis-that presented as respiratory distress in a newborn. Approximately 10 to 20 cases of these two conditions have been described; notably, this is the second documented case of nevus lipomatosus cutaneous superficialis with nasal presentation.
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http://dx.doi.org/10.1080/08998280.2017.11930229 | DOI Listing |
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 PDFEye Contact Lens
December 2024
Department of Ophthalmology (E.D., Z.B.S., E.E.E.O., H.O.), Istanbul Medeniyet University Goztepe Prof. Dr. Suleyman Yalçin City Hospital, Istanbul, Turkey; Goztepe Prof. Dr. Suleyman Yalçin City Hospital (O.F.Y.), Department of Ophthalmology, Istanbul, Turkey; and Haydarpasa Numune Education and Research Hospital (M.S.M.), University of Health Sciences, Sadik Eratik Eye Institute, Istanbul, Turkey.
Objectives: This study compares the cosmetic and functional outcomes of corneal tattooing/keratopigmentation and ocular prostheses in rehabilitating disfigured eyes, focusing on esthetic appearance and emotional well-being.
Methods: Ninety-two patients were included: 48 received corneal tattooing, and 44 were fitted with ocular prostheses. Anophthalmic surgery was indicated for trauma, painful blind eye, endophthalmitis, tumor, and corneal ulcer, while corneal tattooing was performed for trauma, corneal ulcer, and endophthalmitis.
Cleft Palate Craniofac J
January 2025
Division of Orthodontics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil.
This case report presents the multidisciplinary treatment of a male patient with a complex form of frontonasal dysplasia who presented with a 0 to 14 facial cleft, mild hypertelorism, absence of the nasal medial process of the nose, and frontonasal encephalocele. Cranial and plastic surgeries were performed to correct hypertelorism and improve the esthetic appearance of the frontonasal region. In the permanent dentition, the patient presented a Class II, division 1 malocclusion with severe maxillary constriction and bilateral posterior crossbite.
View Article and Find Full Text PDFZhonghua 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.
Medicina (Kaunas)
December 2024
Department of Cranio- and Maxillofacial Surgery, University Hospital Regensburg, Franz-Josef-Strauß-Allee 11, 93053 Regensburg, Germany.
: Orthognathic surgery is used to restore a correct anatomical and functional relationship between the jaws, with postoperative nasal septal deviation (NSD) being a common complication of Le Fort I osteotomy (LF-IO). The aim of this study was to evaluate the occurrence of NSD after LF-IO and to identify possible risk factors. : Pre- and postoperative cone beam computed tomography (CBCT) scans from 2018 to 2023 of 102 patients after LF-IO were analyzed.
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