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Neonatal Familiar Cleidocranial Dysplasia: A Case Report.
Am J Case Rep
January 2025
Department of Neonatology, The Fifth Affiliated Hospital of Zunyi Medical University, Zhuhai, Guangdong, China.
BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.
View Article and Find Full Text PDFHydrolethalus Syndrome: A Case of a Rare Congenital Disorder.
Diagnostics (Basel)
January 2025
Department of Dentistry, Faculty of Dentistry, "Vasile Goldiș" Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, Romania.
This is a fatal case of multiple complicated congenital anomalies displaying several symptoms consistent with hydrolethalus syndrome. The newborn's phenotype is characterized by a combination of serious anatomical abnormalities such as open-book cerebral hemispheres, defective lobulation of the lungs (one lobe on the left, two on the right), a smaller right kidney, a smooth cerebral surface, and a specific keyhole-shaped defect in the skull base, primarily associated with hydrocephalus.
View Article and Find Full Text PDFCompound heterozygous TMEM67 biallelic variants including a novel frameshift mutation in two Filipino adolescent siblings with Joubert syndrome.
J Neural Transm (Vienna)
January 2025
Section of Adult Neurology, Department of Internal Medicine, Chong Hua Hospital, Fuente, Cebu, Philippines.
Joubert Syndrome (JS) is a congenital cerebellar ataxia typically inherited in an autosomal recessive pattern, although rare X-linked inheritance can occur. It is characterized by hypotonia evolving into ataxia, global developmental delay, oculomotor apraxia, breathing dysregulation, and multiorgan involvement. To date, there are 40 causative genes implicated in JS, all of which encode proteins of the primary cilium.
View Article and Find Full Text PDF[Diagnostic and therapeutic approach to unilateral posterior vertical insufficiency].
Orthod Fr
January 2025
Nantes Université, Université Angers, CHU Nantes, INSERM, CNRS, CRCI2NA, 44000 Nantes, France
Introduction: The aim of this article is to present the diagnostic and therapeutic approach to unilateral posterior vertical insufficiency.
Material And Methods: The authors describe the management protocol.
Results: Posterior vertical insufficiency (PVI) manifests clinically as obliquity of the maxillo-mandibular occlusal plane and bicommissural line, and deviation of the chin.
Clinical study on deciduous fused teeth and inherited permanent teeth.
Hua Xi Kou Qiang Yi Xue Za Zhi
February 2025
Dept. of Preventive Oral Health, Suzhou Stomatological Hospital, Suzhou 215000, China.
Objectives: This study aimed to investigate the clinical characteristics of deciduous fused teeth and their inherited permanent-tooth performance type by using panoramic radiographs.
Methods: A total of 14 404 panoramic radiographs of 3- to 6-year-old children with deciduous dentition were collected from January 2023 to July 2024. The incidence of deciduous fused teeth was observed, and the abnormality of permanent teeth was recorded.
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