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Chinese Medical Journal Jan 2015Uterus didelphys and blind hemivagina associated with ipsilateral renal agenesis are collectively known as Herlyn-Werner-Wunderlich syndrome (HWWS). In the literature,...
BACKGROUND
Uterus didelphys and blind hemivagina associated with ipsilateral renal agenesis are collectively known as Herlyn-Werner-Wunderlich syndrome (HWWS). In the literature, the syndrome often appears as a single case report or as a small series. In our study, we reviewed the characteristics of all HWWS patients at Peking Union Medical College Hospital (PUMCH) and suggested a new classification for this syndrome because the clinical characteristics differed significantly between the completely and incompletely obstructed vaginal septum. This new classification allows for earlier diagnosis and treatment.
METHODS
From January 1986 to March 2013, all diagnosed cases of HWWS at PUMCH were reviewed. A retrospective long-term follow-up study of the clinical presentation, surgical prognosis, and pregnancy outcomes was performed. Statistical analyses were performed using SPSS, version 15.0 (IBM, Armonk, NY, USA). Between-group comparisons were performed using the χ2 test, Fisher's exact test, and the t-test. The significance level for all analyses was set at P < 0.05.
RESULTS
The clinical data from 79 patients with HWWS were analyzed until March 31, 2013. According to our newly identified characteristics, we recommend that the syndrome be classified by the complete or incomplete obstruction of the hemivagina as follows: Classification 1, a completely obstructed hemivagina and Classification 2, an incompletely obstructed hemivagina. The clinical details associated with these two types are distinctly different.
CONCLUSIONS
HWWS patients should be differentiated according to these two classifications. The two classifications could be generalized by gynecologists world-wide.
Topics: Adolescent; Child; Congenital Abnormalities; Female; Humans; Male; Retrospective Studies; Urogenital Abnormalities; Uterus; Vagina
PubMed: 25591566
DOI: 10.4103/0366-6999.149208 -
Seminars in Fetal & Neonatal Medicine Apr 2011Newborns with an unusual phenotype with or without malformations are common in the practice of every paediatrician. Determining whether the phenotype is a variation of... (Review)
Review
Newborns with an unusual phenotype with or without malformations are common in the practice of every paediatrician. Determining whether the phenotype is a variation of normal or should be considered abnormal and, if the latter, also finding the cause can be extremely difficult. Here the main steps that should be followed in the diagnostic procedures are discussed. A careful family history and detailed physical examination remain the hallmarks of the investigations in all newborns. Very frequently clinical photographs will facilitate discussing patients with colleagues. Additional investigations usually include radiological examinations of all body parts that show abnormalities, and screening of the heart, kidneys, eyes and hearing. The studies with the highest yield are cytogenetic analyses which nowadays often involve microarray assays. In the near future, total exome sequencing will be available for diagnostic purposes which will have a major impact on the diagnostic process.
Topics: Congenital Abnormalities; Female; Humans; Infant, Newborn; Male; Phenotype; Syndrome
PubMed: 21185245
DOI: 10.1016/j.siny.2010.12.002 -
Molecular Genetics & Genomic Medicine Oct 2020Precise diagnosis and classification of CBWA cases can be challenging. BSA are considered when there is a body wall anomaly, skeletal abnormalities, and the umbilical...
BACKGROUND
Precise diagnosis and classification of CBWA cases can be challenging. BSA are considered when there is a body wall anomaly, skeletal abnormalities, and the umbilical cord is anomalous, absent or rudimentary, and LBWC when there is a body wall and structural limb anomalies with or without craniofacial abnormalities.
METHODS
PubMed was searched for body stalk anomalies, limb body wall complex, body stalk anomalies and amniotic band syndrome, and limb body wall complex and amniotic band syndrome. Sixty nine articles were selected and reviewed. This article systematically classifies the variants of CBWA in 218 cases, the study is based on the embryological and anatomical criteria established by Martín-Alguacil and Avedillo to study BSA in the pig.
RESULTS
Eight different BSA presentation were defined. One hundred and eighty nine cases were classified as BSA, from which five were Type I, nine Type II, 20 Type III, 57 Type IV, 11Type V, 24 Type VI, 11 Type VII, and 52 Type VIII. Twenty six cases presented cranial phenotype, 114 abdominal phenotype, 42 cranio/abdominal overlapping phenotype, and five without defined phenotype. In addition, 52 BSA cases presented some kind of spinal dysraphism (SPDYS) and were classified as BSA/SPDYS, most of these cases did not show structural limb anomalies, except for three cases and were classified as LBWC/SPDYS.
CONCLUSION
This morphology-based classification represents a useful tool for clinical diagnosis, it helps to quantify and to evaluate CBWA in a precise, objective manner.
Topics: Abdomen; Congenital Abnormalities; Embryonic Development; Humans; Phenotype; Skull
PubMed: 32856427
DOI: 10.1002/mgg3.1465 -
Revista Medica de Chile Dec 2009The congenital malformations in the off spring of diabetic mothers are the result of a multifactorial process. Susceptibility to the effects of maternal diabetes in the... (Review)
Review
The congenital malformations in the off spring of diabetic mothers are the result of a multifactorial process. Susceptibility to the effects of maternal diabetes in the pathogenesis of these anomalies is influenced by the genetic background, indicating that there are polymorphic genes that modify the cellular response to hyperglycemia. The modifier genes for the teratogenic effect of maternal diabetes are yet unknown. An excessive glucose supply to embryonic tissues leads to a state of oxidative stress, which affects the expression of genes encoding scavenging enzymes such as super oxide dismutase (SOD) and catastases and activates development genes such as PAX3, involved in neural tube defects. Cell proliferation and cell death are important mechanisms underlying malformations in infants born to diabetic mothers. There is an increase of apoptotic Bax and caspase-3 proteins and a low expression of Bcl-Z ant apoptotic protein in embryos exposed to a diabetic environment. Hyperglycemia decreases intracellular levels of reduced GSH, prostaglandin EZ (PGEZ) and DNA synthesis in embryo's tissues. Understanding the molecular pathogenesis of diabetic embryopathy will allow the use of effective therapies for the prevention of teratogenic effects in diabetic mothers.
Topics: Animals; Apoptosis; Congenital Abnormalities; Diabetes Mellitus, Experimental; Embryo, Mammalian; Female; Humans; Hyperglycemia; Oxidative Stress; Pregnancy; Pregnancy in Diabetics; Rats
PubMed: 20361141
DOI: No ID Found -
HNO Dec 2023Congenital malformations of the pinna and aural atresia can result in major aesthetic and functional deficits. Knowledge about embryologic developments and established...
Congenital malformations of the pinna and aural atresia can result in major aesthetic and functional deficits. Knowledge about embryologic developments and established classification systems is an essential requirement when dealing with affected patients. Early detection of deficiencies and introduction of appropriate diagnostic measures is vital to initiate adequate therapies and prevent long-term disabilities. Treatment for malformations of the pinna-if requested-is mostly surgical, infrequently an epithesis is applied. As in other surgical fields, tissue engineering will likely play a crucial role in the future. Treatment of aural stenosis and atresia aims at improvement of hearing levels and prevention of secondary complications like cholesteatoma and chronic otorrhea. Auditory rehabilitation comprises a spectrum from conventional hearing aids to invasive hearing implants, the latter being favored in recent years.
Topics: Humans; Congenital Microtia; Ear, External; Hearing; Hearing Tests; Ear Diseases; Congenital Abnormalities
PubMed: 37921885
DOI: 10.1007/s00106-023-01381-z -
Journal of Medical Genetics Jul 1988The study of the natural history of genetic disorders and syndromes with congenital anomalies and dysmorphic features is a challenging and often neglected area. There... (Review)
Review
The study of the natural history of genetic disorders and syndromes with congenital anomalies and dysmorphic features is a challenging and often neglected area. There are many reasons to pursue this type of research but it requires special clinical skills and a considerable amount of hard work. Setting up protocols and collecting data is complex and time consuming. Frequently, helpful clues for a particular disorder come from the study of the natural history of other disorders. Older affected subjects and unique cases with unusual features are often most important in unravelling the 'normal' course of a disease or recognising the basic defect. The study of natural history from individual patients and their records is complementary to population or registry based studies because it identifies individual variations and clinical heterogeneity. The understanding of the natural history of a particular disorder is of importance both to the affected person and their family and to the physicians caring for them. It is also useful to the basic researcher trying to determine the pathogenetic mechanism causing the disorder. In many ways, clinical geneticists have learned the art of caring for patients, as well as the challenges of clinical genetics, by becoming apprentices to and studying in depth specific disease entities.
Topics: Congenital Abnormalities; Data Collection; Diagnosis, Differential; Genetic Counseling; Humans; Medical Records, Problem-Oriented; Syndrome
PubMed: 3050091
DOI: 10.1136/jmg.25.7.434 -
The Cornell Veterinarian Jan 1993
Topics: Animals; Congenital Abnormalities; Female; Fever; Humans; Pregnancy; Pregnancy Complications
PubMed: 8417850
DOI: No ID Found -
BMJ (Clinical Research Ed.) May 1989
Review
Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Congenital Abnormalities; Female; Fetal Death; Humans; Infant, Newborn; Pregnancy; Pregnancy Complications; Syndrome
PubMed: 2502226
DOI: 10.1136/bmj.298.6682.1235 -
PloS One 2018Surveillance of congenital anomalies is important to identify potential teratogens.
BACKGROUND
Surveillance of congenital anomalies is important to identify potential teratogens.
METHODS
This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980-2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models.
RESULTS
Seventeen anomaly subgroups had statistically significant trends from 2003-2012; 12 increasing and 5 decreasing.
CONCLUSIONS
The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to 2.0%), 4.6% (1.0% to 8.2%), 3.4% (1.3% to 5.5%) and 4.1% (2.4% to 5.7%) respectively may reflect increases in maternal obesity and diabetes (known risk factors). The increased prevalence of cystic adenomatous malformation of the lung [6.5% (3.5% to 9.4%)] and decreased prevalence of limb reduction defects [-2.8% (-4.2% to -1.5%)] are unexplained. For renal dysplasia and maternal infections, increasing trends may be explained by increased screening, and deceases in patent ductus arteriosus at term and increases in craniosynostosis, by improved follow up period after birth and improved diagnosis. For oesophageal atresia, duodenal atresia/stenosis and ano-rectal atresia/stenosis recent changes in prevalence appeared incidental when compared with larger long term fluctuations. For microcephaly and congenital hydronephrosis trends could not be interpreted due to discrepancies in diagnostic criteria. The trends for club foot and syndactyly disappeared once registries with disparate results were excluded. No decrease in neural tube defects was detected, despite efforts at prevention through folic acid supplementation.
Topics: Congenital Abnormalities; Europe; Female; History, 20th Century; History, 21st Century; Humans; Male; Population Surveillance; Pregnancy; Prevalence; Registries
PubMed: 29621304
DOI: 10.1371/journal.pone.0194986 -
Prenatal Diagnosis Jan 2018The objective of this study was to determine the association of copy number variants (CNV) with perinatal outcomes among fetuses with sonographic abnormalities.
OBJECTIVE
The objective of this study was to determine the association of copy number variants (CNV) with perinatal outcomes among fetuses with sonographic abnormalities.
METHODS
This was a retrospective cohort study of anomalous fetuses evaluated at a single fetal center, who underwent chromosomal microarray (CMA) testing. Pathogenic CNV or variants of uncertain significance were classified as abnormal. The primary outcome of perinatal death was compared among fetuses with normal vs abnormal CMA. Secondary outcomes included preterm birth, small for gestational age birth weight, and death prior to discharge. The odds ratio (OR) of perinatal death was determined, adjusting for potential confounders.
RESULTS
Of 280 fetuses, 60 (21.4%) had abnormal CMA results-21 (35.0%) were classified as pathogenic, 39 (65.0%) were variants of uncertain significance. Among 212 (75.7%) continuing pregnancies, abnormal CMA was not associated with increased odds of perinatal death (adjusted OR 0.81, 95% CI 0.34-1.93), after adjustment for the presence of hydrops and specific anomalies. The overall frequency of perinatal death was 21.2%. No differences in secondary outcomes were observed.
CONCLUSIONS
Abnormal CMA was not associated with increased odds of perinatal death in this cohort. Fetal CNV are common among fetal center patients; such fetuses are at high risk of perinatal death irrespective of CMA results.
Topics: Adult; Chromosome Aberrations; Chromosomes; Cohort Studies; Congenital Abnormalities; Female; Humans; Infant, Newborn; Karyotyping; Male; Microarray Analysis; Perinatal Death; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Prognosis; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 29297200
DOI: 10.1002/pd.5202