Congenital Anomalies最新文献

The purpose of this study was to elucidate the imaging characteristics of the gubernaculum tracts in successional teeth related to fused deciduous teeth on computed tomography. The imaging findings of 15 gubernaculum tracts in successional teeth related to fused deciduous teeth were retrospectively analyzed using cone-beam computed tomography or multidetector computed tomography. In cases without a congenitally defected successor, the two gubernaculum tracts of two successional teeth related to fused deciduous teeth were fused into one. Gubernaculum tracts (GTs) in mesial successors were vertical, but in distal successors they were inclined to mesial. The major abnormalities of the successional teeth related to fused deciduous teeth were delayed eruption and delayed formation. No inclined mesial successors were found, whereas most of the distal successors were inclined to mesial along with the inclined GT. The gubernaculum tracts of successors with a congenital defect of the other successors were vertical, and such successors had no abnormalities. The present study showed the imaging characteristics of gubernaculum tracts in successional teeth related to fused deciduous teeth. The abnormal eruption of successional teeth related to fused deciduous teeth may be associated with the characteristics of their gubernaculum tracts.

Congenital diaphragmatic hernia (CDH) is one of the illnesses with high mortality and morbidity rates. The study aims to compare the Congenital Diaphragmatic Hernia Study Group (CDHSG) model and PCO₂ in determining the mortality risk of CDH in the early postnatal period in neonates. The data of 35 patients who were treated CDH were analyzed retrospectively. The sex, gestational age, birth weight, delivery method, presence of chromosomal anomaly, congenital cardiac and other anomalies, pulmonary hypertension, the 5-min Apgar score, PCO₂ values of blood gas in the first 24 h, mode of ventilation were recorded. According to the CDHSG model, the mortality risk of CDH was divided into three categories: as low, moderate, high risk. Based on the blood gases in the first 24 h after delivery, the CDH mortality risk was considered in two categories as low and high. Based on the CDHSG model, the risk of CDH mortality was low in 11.4%, moderate in 20%, and high in 68.6%. Mortality rates were 0%, 42.8%, and 83.3%, respectively. Based on the PaCO₂, the risk of CDH mortality was low in 37.1% of patients and high in 62.8%. The mortality rate was 86.3% in high-severity patients and 30.7% in low-risk patients. No significant difference was found between the area under the curve values of the CDHSG model and PCO₂. Especially in developing countries, in cases where opportunities are limited, the severity of the disease, the need for more aggressive treatment, and the need for higher-level intensive care can be determined with the easily accessible and low-cost blood gas PCO₂ at the bedside.

Herlyn–Werner–Wunderlich (HWW) syndrome is a rare complex female urogenital anomaly, with diverse anatomical presentations. Due to obstruction, most patients with HWW syndrome need to be addressed surgically. The treatment strategy should be tailored to the different anatomical variants of each patient. Therefore, a detailed and comprehensive preoperative evaluation is needed. In this review, we describe the embryology and clinical manifestations of HWW syndrome and discuss and illustrate its diverse preoperative magnetic resonance imaging presentations to guide clinical treatment.

Congenital cytomegalovirus (CMV) infection can cause severe neurological sequelae or even fetal death. We present a 17-year-old pregnant woman with fetal CMV infection, leading to voluntary termination of pregnancy. Fetopsy demonstrated a brainstem hemorrhage and focal polymicrogyria. CMV inclusions were observed in the lung, liver, thyroid, pancreas, kidneys, adrenal, placenta, and central nervous system. Intracranial hemorrhage is a rare finding in the context of congenital CMV infection, with isolated brainstem hemorrhage being an exceptional form of presentation. Polymicrogyria appears to be a more frequent finding, although its actual incidence is unknown. Future studies are needed to determine the causal association.

It is aesthetically important that the auricle has a natural and beautiful shape. The sizes, position and symmetry of normal auricle are used for different purposes in different disciplines. A deformation in the auricle of neonates and its size or location on the face may indicate a possible anomaly. The aim of this study is to investigate the normal sizes, anomaly types, anomaly rates and the relationship between hearing screening test results and auricular anomaly of the neonatal auricle. The length, width, angle, and distance measurements of the auricle were made in neonates (n = 550). Anomaly types of auricle were observed. Goniometer was used to measure angles; digital caliper and ruler were used to measure lengths. Anomalies were detected by the method of observation. In the morphometric data of the neonatal auricle, differences were determined in length and width values in terms of gender. Various types of anomalies were observed in the right ear of 96 participants and in the left ear of 103 participants. Normal auricle size, position and symmetry are important for surgical reconstructions, hearing aid design, producing data banks on gender, age and ethnicity, and providing reference information for multiple diagnostic and forensic procedures. Recognition and early detection of auricular anomalies play an essential role in clinical diagnosis and their correction with special devices.