Purpose: The exact quantification of craniofacial characteristics in patients with acromegaly is important because it provides insight in the pathophysiology of the disease and offers a tool to evaluate the effects of treatment on tissue specific endpoints. However, until recently this was not feasible due to limitations of available cephalometric methods. The new technique of three-dimensional (3D) cephalometry enables the accurate quantification of facial anatomical characteristics of both soft tissue and bone. This is the first study that uses 3D cephalometry to analyze craniofacial disproportions in patients in long-term remission of acromegaly.
Methods: Sixteen patients in remission of acromegaly for over 24 months (50% male, mean age 56.0 ± 10.7 years, mean body mass index 29.3 ± 5.5 kg/m(2)) were compared to 16 matched control subjects. A 3D cone beam computed tomography scan and 3D stereophotograph of each individual were acquired and analyzed using 3D cephalometry.
Results: In addition to an accurate quantification of the classical craniofacial characteristics, 3D cephalometry, shows that many typical soft tissue deformities persist, even after long-term remission. Furthermore, we found that, compared to controls, the patients in remission of acromegaly have a wider face at the level of the zygoma and longer maxilla (p < 0.05).
Conclusions: 3D cephalometry is an attractive novel imaging modality to accurately investigate craniofacial disproportions of both soft tissue and bony parts of the face in patients with acromegaly, which makes it a promising technique for future research purposes and clinical practice.
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http://dx.doi.org/10.1007/s11102-014-0565-x | DOI Listing |
Ital J Pediatr
January 2025
Child Healthcare Department, Children's Hospital of Nanjing Medical University, Jiangdong South No.8 Road, Nanjing, Jiangsu, 210008, China.
Background: This study aimed to investigate deoxyribonucleic acid (DNA) copy number variations (CNVs) in children with neurodevelopmental disorders and their association with craniofacial abnormalities.
Methods: A total of 1,457 children who visited the Child Health Department of our hospital for unexplained Neurodevelopmental disorders (NDDs) between November 2019 and December 2022 were enrolled. Peripheral venous blood samples (2 mL) were collected from the children and their parents for whole-exome sequencing.
Ann Plast Surg
January 2025
Department of Ophthalmology, University Hospital Centre Zagreb, Zagreb, Croatia.
Introduction: Giant basal cell carcinoma (GBCC) is a rare and aggressive subtype of basal cell carcinoma (BCC), characterized by a diameter of ≥5 cm and a potential for deep tissue invasion. This study aimed to present our experience with the surgical management of GBCC in the maxillofacial region, focusing on resection and immediate reconstruction strategies.
Methods: We conducted a retrospective analysis of 5926 patients with BCC in the maxillofacial region from 2010 to 2020, with a specific emphasis on 32 patients diagnosed with GBCC.
Rev Paul Pediatr
January 2025
Universidade Estadual do Oeste do Paraná, Cascavel, PR, Brazil.
Objective: The aim of this study was to report the case of a child with Jacobsen syndrome in order to provide phenotypic information about this rare genetic disorder.
Case Description: A 5-year-old female preschooler was diagnosed with Jacobsen syndrome by karyotype testing. She presented with a variety of craniofacial anomalies and malformations, including cardiac impairment, characterized by a cluster of malformations in the left ventricle in line with the diagnosis of Shone's complex.
J Plast Surg Hand Surg
January 2025
Discipline of Clinical Anatomy, School of Laboratory Medicine and Medical Sciences, Westville Campus University of KwaZulu-Natal, Durban, South
Background: Hemifacial microsomia (HFM) presentation includes gross distorted ramus, malposition temporomandibular joint, small glenoid fossa, distorted condyle and notch, malformed orbit, cupping ear or absent external ear, and facial nerve palsy. HFM is the second most prevalent congenital deformity of the face, with little literature from the South African population. This retrospective study elucidated the demographic characteristics and clinical presentations of HFM patients in a select South African population and compared it to the literature.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
January 2025
Department of Obstetric and Gynecological Ultrasound, The Second Affiliated Hospital of Dalian Medical University, Dalian, China.
Background: Diprosopus is one of the rarest anomalies. It typically manifests as bilateral alterations and often involves anomalies within the cranial structures. In this report, we present a case of a fetus with diprosopus diagnosed prenatally.
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