Agenesis
View article: Patterns of Congenital Missing Teeth in South Korea with Non-Syndromic Oligodontia: A Retrospective Study
Patterns of Congenital Missing Teeth in South Korea with Non-Syndromic Oligodontia: A Retrospective Study Open
This study aimed to analyze the types, distribution, symmetry, and patterns of congenitally missing teeth (CMT) in patients with non-syndromic oligodontia who visited 11 dental university hospitals in South Korea. Between 2001 and 2024, a …
View article: DiseaseOntology/HumanDiseaseOntology: DO November 2025 Release
DiseaseOntology/HumanDiseaseOntology: DO November 2025 Release Open
This release of the Human Disease Ontology includes 11,997 disease classes, 9,713 with textual definitions (81.0%). Translation files now include 11,824 labels (98.6%), 11,483 synonyms (59.1%), and 6,409 definitions (66.0%) in Spanish. New…
View article: Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro
Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro Open
Neurodevelopmental disorders (NDD) with brain malformations have recently been associated with de novo variants in the DPYSL5 gene, which encodes a member of the dihydropyrimidinase-like proteins family. Here, we aimed to understand its ro…
View article: Association between third molar agenesis and dental maturity in Brazilian children
Association between third molar agenesis and dental maturity in Brazilian children Open
The aim of the current study is to investigate if third molar agenesis is associated with dental maturity variations in Brazilian children. Radiographs of children from 10 to 15 years old were examined and patients with 32 teeth were inclu…
View article: Appendiceal agenesis discovered incidentally at laparotomy for suspected acute appendicitis: a case report and review of the literature
Appendiceal agenesis discovered incidentally at laparotomy for suspected acute appendicitis: a case report and review of the literature Open
The vermiform appendix is a vestigial organ in humans. The congenital absence of the appendix was first described by Morgagni in 1719. Since then, more than a hundred such cases have been reported. The estimated incidence of this condition…
View article: Joubert Syndrome with Intellectual Disability: The First Documented Case from the United Arab Emirates
Joubert Syndrome with Intellectual Disability: The First Documented Case from the United Arab Emirates Open
Joubert syndrome represents a rare autosomal recessive ciliopathy affecting approximately 1 in 80,000 to 100,000 live births worldwide, though prevalence reaches 1 in 5,000 births in the United Arab Emirates due to high consanguinity rates…
View article: Right Pulmonary Artery Agenesis Revealed by Chest CT: A Case Report
Right Pulmonary Artery Agenesis Revealed by Chest CT: A Case Report Open
Background: Unilateral pulmonary artery agenesis (UPAA) is a rare congenital vascular anomaly resulting from an embryologic failure of the sixth aortic arch to connect with the pulmonary trunk. Its clinical presentation is variable, rangin…
View article: Clinical assessment of anatomical variation of flexor digitorum superficialis in the little finger
Clinical assessment of anatomical variation of flexor digitorum superficialis in the little finger Open
Objective: To determine the frequency of anatomical variation of flexor digitorum superficialis in the little finger, prevalence of isolated presence of 5th digit flexor digitorum superficialis tendon and interconnected presence of 4th and…
View article: Congenital Fibula Aplasia, Tibial Campomelia with Oligosyndactyly in an Infant (Fatco Syndrome): Ragiographic Findings and A Case Report
Congenital Fibula Aplasia, Tibial Campomelia with Oligosyndactyly in an Infant (Fatco Syndrome): Ragiographic Findings and A Case Report Open
FATCO syndrome is a rare congenital limb malformation characterized by absence or hypoplasia of the fibula, aplasia or dysplasia of the tarsal bones, shortened or curved tibia (campomelia) and oligosyndactyly (missing or fused digit especi…
View article: A novel DCC truncating mutation leads to rare congenital mirror movements and corpus callosum agenesis: A case report
A novel DCC truncating mutation leads to rare congenital mirror movements and corpus callosum agenesis: A case report Open
Rationale: Mirror movements (MRMVs) are quite common in young children and typically diminish before the age of 10. However, congenital MRMVs often persist into adulthood. MRMV1 is a rare neurodevelopmental disorder characterized by involu…
View article: Agenesis of Thyroid Isthmus Associated with Thyroid Papillary Carcinoma: A Rare Case
Agenesis of Thyroid Isthmus Associated with Thyroid Papillary Carcinoma: A Rare Case Open
Abstract Anatomical anomalies of the thyroid gland are very important for the management of thyroidectomy operations. The thyroid gland consists of two lobes and the isthmus connecting them. The absence of the isthmus of t…
View article: MAYER-ROKITANSKY-KÜSTER-HAUSER SYNDROME IN GIRLS: CAUSES AND DIAGNOSTIC APPROACHES FOR UTERINE AND VAGINAL AGENESIS
MAYER-ROKITANSKY-KÜSTER-HAUSER SYNDROME IN GIRLS: CAUSES AND DIAGNOSTIC APPROACHES FOR UTERINE AND VAGINAL AGENESIS Open
Mayer-Rokitansky-Küster-Hauser MRKH syndrome is a rare congenital anomaly affecting phenotypically female individuals, characterized by the partial or complete absence of the uterus and upper two-thirds of the vagina. Despite normal ovaria…
View article: MAYER-ROKITANSKY-KÜSTER-HAUSER SYNDROME IN GIRLS: CAUSES AND DIAGNOSTIC APPROACHES FOR UTERINE AND VAGINAL AGENESIS
MAYER-ROKITANSKY-KÜSTER-HAUSER SYNDROME IN GIRLS: CAUSES AND DIAGNOSTIC APPROACHES FOR UTERINE AND VAGINAL AGENESIS Open
Mayer-Rokitansky-Küster-Hauser MRKH syndrome is a rare congenital anomaly affecting phenotypically female individuals, characterized by the partial or complete absence of the uterus and upper two-thirds of the vagina. Despite normal …
View article: Complete Pancreatic Agenesis Presenting With Neonatal Diabetes and Exocrine Insufficiency: A Case Report
Complete Pancreatic Agenesis Presenting With Neonatal Diabetes and Exocrine Insufficiency: A Case Report Open
View article: Uncovering the Mystery of Idiopathic Hypercementosis Associated with Other Dental Variations
Uncovering the Mystery of Idiopathic Hypercementosis Associated with Other Dental Variations Open
The aim of the present research paper is to show case occurrence of idiopathic generalised hypercementosis of different patterns in a 64-year-old female Indian patient. The article also illustrates presence of unique dental features and de…
View article: Uncovering the Mystery of Idiopathic Hypercementosis Associated with Other Dental Variations
Uncovering the Mystery of Idiopathic Hypercementosis Associated with Other Dental Variations Open
The aim of the present research paper is to show case occurrence of idiopathic generalised hypercementosis of different patterns in a 64-year-old female Indian patient. The article also illustrates presence of unique dental features …
View article: Comparative Study of Frontal Sinus Size in Different Populations Using Radiographs in Western Up Gonda
Comparative Study of Frontal Sinus Size in Different Populations Using Radiographs in Western Up Gonda Open
Background: The frontal sinus, an anatomically variable structure within the human skull, serves multiple physiological roles and holds significant forensic and diagnostic value. Due to its uniqueness and postmortem durability, frontal sin…
View article: Comparative Study of Frontal Sinus Size in Different Populations Using Radiographs in Western Up Gonda
Comparative Study of Frontal Sinus Size in Different Populations Using Radiographs in Western Up Gonda Open
Background: The frontal sinus, an anatomically variable structure within the human skull, serves multiple physiological roles and holds significant forensic and diagnostic value. Due to its uniqueness an…
View article: Imaging findings in Klippel-feil Syndrome with Unilateral Renal Agenesis and Ectopic Pelvic Kidney
Imaging findings in Klippel-feil Syndrome with Unilateral Renal Agenesis and Ectopic Pelvic Kidney Open
View article: Agenesis of Thyroid Isthmus Associated with Thyroid Papillary Carcinoma: A Rare Case
Agenesis of Thyroid Isthmus Associated with Thyroid Papillary Carcinoma: A Rare Case Open
Anatomical anomalies of the thyroid gland are very important for the management of thyroidectomy operations. The thyroid gland consists of two lobes and the isthmus connecting them. The absence of the isthmus of the thyroid gland is define…
View article: Right Atrial Thrombus After Cardiac Surgery With Tissue Expander in a Child With Right Pulmonary Agenesis
Right Atrial Thrombus After Cardiac Surgery With Tissue Expander in a Child With Right Pulmonary Agenesis Open
View article: Dentoalveolar changes following extraction of mandibular primary second molars in patients with congenitally missing second premolars—a longitudinal randomized controlled trial
Dentoalveolar changes following extraction of mandibular primary second molars in patients with congenitally missing second premolars—a longitudinal randomized controlled trial Open
Background Early management of congenitally missing mandibular second premolars may influence craniofacial growth, yet the long-term effects of extracting the primary second molars remain unclear. Objectives To evaluate the skeletal and de…
View article: Intrahepatic agenesis of the vena cava causing venous thrombosis of the lower limbs
Intrahepatic agenesis of the vena cava causing venous thrombosis of the lower limbs Open
View article: A Rare Case of Partial Anomalous Pulmonary Venous Return (Scimitar Syndrome) with Vaginal Agenesis and a History of Infantile Imperforated Anus
A Rare Case of Partial Anomalous Pulmonary Venous Return (Scimitar Syndrome) with Vaginal Agenesis and a History of Infantile Imperforated Anus Open
Scimitar syndrome is a rare congenital cardiac anomaly characterized by abnormal drainage of the right pulmonary veins into the inferior vena cava (IVC). Here, we report the case of a 26-year-old female diagnosed with scimitar syndrome (SS…
View article: A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel <i>PORCN</i> Variant
A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel <i>PORCN</i> Variant Open
Key Points What is already known about this topic? What does this study add?
View article: Euvolemic hypotonic hyponatremia in a boy with corpus callosum agenesis and neurodevelopmental delay
Euvolemic hypotonic hyponatremia in a boy with corpus callosum agenesis and neurodevelopmental delay Open
View article: A Case of Tracheal Agenesis Resuscitated With Tracheal Intubation via Esophagus
A Case of Tracheal Agenesis Resuscitated With Tracheal Intubation via Esophagus Open
Tracheal agenesis is a rare type of congenital anomaly accompanied with a complete or partial absence of the trachea. This condition is usually fatal due to respiratory distress shortly after birth. We present a case of Floyd type II trach…
View article: A case of rudimentary uterine horns with cervical agenesis with intramural fibroid and bilateral endometrioma
A case of rudimentary uterine horns with cervical agenesis with intramural fibroid and bilateral endometrioma Open
The objective of the study was to report a case of rudimentary horns of cervical agenesis with intramural fibroid and bilateral endometrioma. A 35-year-old nulligravida with a rare Mullerian anomaly of uterus, cervix and vagina with coexis…
View article: P110 | Use of DOACs in the treatment of deep vein thrombosis secondary to inferior vena cava agenesis: A case study from the Provincial Health Services Company of Trento
P110 | Use of DOACs in the treatment of deep vein thrombosis secondary to inferior vena cava agenesis: A case study from the Provincial Health Services Company of Trento Open
Background: Inferior vena cava agenesis (IVCA) is a rare congenital anomaly (estimated prevalence 0.0005-1%), and represents an underestimated cause of deep vein thrombosis (DVT), particularly in young individuals. Data on the efficacy and…
View article: Closed-lip schizencephaly, grey matter heterotopia, and corpus callosum agenesis
Closed-lip schizencephaly, grey matter heterotopia, and corpus callosum agenesis Open