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Obstetrical & Gynecological Survey Feb 2017Major congenital abnormalities, or birth defects, carry significant medical, surgical, cosmetic, or lifestyle consequences. Such abnormalities may be syndromic,... (Review)
Review
IMPORTANCE
Major congenital abnormalities, or birth defects, carry significant medical, surgical, cosmetic, or lifestyle consequences. Such abnormalities may be syndromic, involving multiple organ systems, or can be isolated. Overall, 2% to 4% of live births involve congenital abnormalities. Risk factors for birth defects are categorized as modifiable and nonmodifiable. Modifiable risk factors require thorough patient education/counseling. The strongest risk factors, such as age, family history, and a previously affected child, are usually nonmodifiable.
OBJECTIVE
This review focuses on risk factors for birth defects including alcohol consumption, illicit drug use, smoking, obesity, pregestational diabetes, maternal phenylketonuria, multiple gestation, advanced maternal age, advanced paternal age, family history/consanguinity, folic acid deficiency, medication exposure, and radiation exposure.
EVIDENCE ACQUISITION
Literature review via PubMed.
RESULTS
There is a strong link between alcohol use, folic acid deficiency, obesity, uncontrolled maternal diabetes mellitus, uncontrolled maternal phenylketonuria, and monozygotic twins and an increased risk of congenital anomalies. Advanced maternal age confers an increased risk of aneuploidy, as well as nonchromosomal abnormalities. Some medications, including angiotensin converting enzyme inhibitors, retinoic acid, folic acid antagonists, and certain anticonvulsants, are associated with various birth defects. However, there are few proven links between illicit drug use, smoking, advanced paternal age, radiation exposure, and statins with specific birth defects.
CONCLUSIONS AND RELEVANCE
Birth defects are associated with multiple modifiable and nonmodifiable risk factors. Obstetrics providers should work with patients to minimize their risk of birth defects if modifiable risk factors are present and to appropriately counsel patients when nonmodifiable risk factors are present.
Topics: Congenital Abnormalities; Counseling; Effect Modifier, Epidemiologic; Female; Humans; Pregnancy; Risk Assessment; Risk Factors; Risk Reduction Behavior
PubMed: 28218773
DOI: 10.1097/OGX.0000000000000405 -
The Lancet. Child & Adolescent Health Apr 2018Advances in antenatal screening have provided evidence that the prevalence of congenital pulmonary airway malformation is higher than previously thought. This means... (Review)
Review
Advances in antenatal screening have provided evidence that the prevalence of congenital pulmonary airway malformation is higher than previously thought. This means that, on a global scale, more congenital pulmonary airway malformations will be diagnosed and seen by clinicians across many different specialties. This increase poses new controversies and challenges for clinicians in terms of prenatal and postnatal management. Important and exciting research has begun to emerge in the past decade. This Review describes current understanding of the disease, the latest surgical developments, and highlights management issues and controversies, including the rationale and timing of surgical intervention, the choice of surgical approach, and long-term functional outcomes. In doing so, we attempt to provide a balanced management algorithm for readers.
Topics: Congenital Abnormalities; Female; Humans; Infant, Newborn; Lung; Pregnancy; Ultrasonography, Prenatal
PubMed: 30169300
DOI: 10.1016/S2352-4642(18)30035-X -
Nederlands Tijdschrift Voor Geneeskunde Feb 2020This case discussion on urethral coitus in Mayer-Rokitansky-Küster-Hauser syndrome shows that this rare syndrome can have major physical and psychological consequences....
This case discussion on urethral coitus in Mayer-Rokitansky-Küster-Hauser syndrome shows that this rare syndrome can have major physical and psychological consequences. Further consideration shows that a lack of common sense and a lack of action concerning sexual history-taking and careful vulvar examination is the reason that an iatrogenic sexual problem arose in this case. This was not the result of the initial denial of a rare diagnosis. Both attention to these aspects during training and supervision are necessary, since other disorders and medical treatments can also have a negative impact on sexuality.
Topics: 46, XX Disorders of Sex Development; Coitus; Congenital Abnormalities; Female; Humans; Iatrogenic Disease; Mullerian Ducts; Sexual Dysfunctions, Psychological; Urethral Diseases; Vulva
PubMed: 32392001
DOI: No ID Found -
Plastic and Reconstructive Surgery Aug 2015After reading this article, the participant should be able to: 1. Accurately diagnose congenital differences that affect the hand. 2. Develop a surgical plan for... (Review)
Review
LEARNING OBJECTIVES
After reading this article, the participant should be able to: 1. Accurately diagnose congenital differences that affect the hand. 2. Develop a surgical plan for syndactyly with regard to timing of intervention to prevent progressive deformity and principles to restore the commissure. 3. List the potential complications following polydactyly reconstruction. 4. State the indications for pollicization for thumb hypoplasia.
SUMMARY
Congenital conditions of the hand are commonly encountered in a pediatric hand surgery practice. The physician must be comfortable and have a sound understanding of the diagnosis and treatment algorithm. Certain diagnoses are inheritable and require genetic testing and/or genetic counseling. Appropriate referral is necessary to facilitate education about the congenital difference and its effect on subsequent generations. Syndactyly, polydactyly, thumb hypoplasia, and cleft hand are particularly commonplace and are discussed in this article. The treatment principles and surgical techniques are emphasized to maximize hand function and aesthetic outcome.
Topics: Education, Medical, Continuing; Female; Follow-Up Studies; Hand Deformities; Hand Deformities, Congenital; Humans; Incidence; Male; Orthopedic Procedures; Polydactyly; Plastic Surgery Procedures; Recovery of Function; Thumb; Treatment Outcome
PubMed: 26218399
DOI: 10.1097/PRS.0000000000001499 -
BMJ Case Reports May 2015
Topics: 46, XX Disorders of Sex Development; Amenorrhea; Congenital Abnormalities; Female; Humans; Magnetic Resonance Imaging; Mullerian Ducts; Young Adult
PubMed: 25979964
DOI: 10.1136/bcr-2015-210187 -
Cold Spring Harbor Molecular Case... Oct 2020Congenital anomalies are common, with 2%-3% of infants estimated to have at least one major congenital malformation and countless others with minor malformations of... (Review)
Review
Congenital anomalies are common, with 2%-3% of infants estimated to have at least one major congenital malformation and countless others with minor malformations of lesser cosmetic or medical importance. As congenital malformations are major drivers of morbidity and mortality, representing the leading cause of infant mortality in the United States, there is substantial interest in understanding the underlying etiologies-particularly if modifiable causes may be identified or pre- or postnatal treatments can be offered. Recent research has begun to reveal the spectrum of monogenic disorders that commonly result in birth defects, and newer approaches have revealed non-Mendelian genetic contributions including gene-environment interactions. Our experience suggests that increased efforts to sequence and analyze cases of perinatal death, as well as continued global collaboration, will be essential in understanding the genomic landscape of structural anomalies.
Topics: Congenital Abnormalities; Family Characteristics; Female; Humans; Infant; Pregnancy
PubMed: 32826208
DOI: 10.1101/mcs.a005504 -
Urologia Internationalis 2022The urachus is an embryologic remnant which is formed from the obliteration of the allantois. Urachal abnormalities are caused when defective obliteration of the urachus...
INTRODUCTION
The urachus is an embryologic remnant which is formed from the obliteration of the allantois. Urachal abnormalities are caused when defective obliteration of the urachus happens. They are an infrequent condition. Incidence is estimated to be between 5,000 and 8,000 live births. Its diagnosis and management remain a challenge due to the lack of an specific clinical picture and the controversy about the management.
OBJECTIVE
The objective of this study is to assess the clinical presentation, diagnosis, therapeutic management, and outcomes of urachal anomalies in our health area.
MATERIALS AND METHODS
We performed a retrospective review of all cases of urachal anomalies recorded Tenerife (southern health area), La Gomera, and El Hierro Islands during a 5 year period.
RESULTS
Twenty-three cases of urachal pathology were included. The mean age of presentation was 32 years old. 73.9% were male. 65% were diagnosed in adults. In 30.3% of the cases, it was a casual finding. Symptoms included fever, umbilical exudate, hematuria, abdominal pain, and umbilical granuloma. The main diagnostic tests were ultrasound and computed tomography scan. Treatments were selected conservative management (43.5%), selective resection, partial cystectomy, and radical cystectomy. All patients had a good evolution. However, 2 cases where benign tumors were suspected, clinically, had a final histology of cancer in the specimen.
CONCLUSIONS
Due to the lack of a specific clinical picture and undefined findings in image tools, diagnosis is difficult and it may be inaccurate. Despite more data are needed, our results suggest that the systematic excision of urachal lesions could result in safer outcomes since cases where a benign lesion is clinically suspected might result in malignant tumors.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Congenital Abnormalities; Female; Humans; Infant; Male; Middle Aged; Retrospective Studies; Treatment Outcome; Urachus; Young Adult
PubMed: 33957634
DOI: 10.1159/000515648 -
The Veterinary Clinics of North... Aug 2017Angular limb deformities are seen in young foals and are defined as lateral or medial deviations of the limb in the frontal plane distal to a particular joint. Several... (Review)
Review
Angular limb deformities are seen in young foals and are defined as lateral or medial deviations of the limb in the frontal plane distal to a particular joint. Several factors can contribute to the development of an angular limb deformity. Early assessment of the level of ossification of the cuboidal bones is critical to avoid complications long term. Although most deviations self-correct with minimal intervention other than modifications in exercise and hoof trimming, some require surgical intervention in the form of growth acceleration or retardation. This article focuses on growth augmentation techniques, such as hemicircumferential transection and elevation.
Topics: Animals; Animals, Newborn; Carpus, Animal; Hoof and Claw; Horse Diseases; Horses; Joint Instability; Limb Deformities, Congenital; Osteogenesis; Physical Conditioning, Animal; Risk Factors; Tarsal Bones; Tarsus, Animal
PubMed: 28687094
DOI: 10.1016/j.cveq.2017.03.005 -
Journal of Pediatric Surgery Aug 2014Accessory hemi diaphragm (AHD) is an uncommon condition. Its clinical features, diagnosis and management have not been clearly defined. (Review)
Review
BACKGROUND/PURPOSE
Accessory hemi diaphragm (AHD) is an uncommon condition. Its clinical features, diagnosis and management have not been clearly defined.
METHODS
We reviewed the world literature and added a case of our own.
RESULTS
There are 40 proven cases in the literature. The lesion occurs almost exclusively in the right hemithorax. Twenty seven cases presented with cardiovascular and/or respiratory symptoms while 3 had symptoms pertaining to other systems. In the remaining 10 patients the diagnosis was either made accidentally or information pertaining to their presentation is missing. Abnormalities of pulmonary and systemic blood vessels often accompany the abnormality. The diagnosis is usually suspected because of an abnormal chest radiograph and confirmed by a variety of tests.
CONCLUSIONS
If the AHD prevents proper aeration of the lung it should be excised. If vascular abnormalities coexist they should be treated along with the AHD. Asymptomatic patients may be observed after confirming the diagnosis.
Topics: Congenital Abnormalities; Diagnosis, Differential; Diaphragm; Humans; Infant, Newborn; Magnetic Resonance Imaging; Male; Thoracic Surgical Procedures; Tomography, X-Ray Computed
PubMed: 25092100
DOI: 10.1016/j.jpedsurg.2014.03.005 -
Paediatric Respiratory Reviews Jan 2016A broad spectrum of congenital upper airway anomalies can occur as a result of errors during embryologic development. In this review, we will describe the clinical... (Review)
Review
A broad spectrum of congenital upper airway anomalies can occur as a result of errors during embryologic development. In this review, we will describe the clinical presentation, diagnosis, and management strategies for a few select, rare congenital malformations of this system. The diagnostic tools used in workup of these disorders range from prenatal tests to radiological imaging, swallowing evaluations, indirect or direct laryngoscopy, and rigid bronchoscopy. While these congenital defects can occur in isolation, they are often associated with disorders of other organ systems or may present as part of a syndrome. Therefore workup and treatment planning for patients with these disorders often involves a team of multiple specialists, including paediatricians, otolaryngologists, pulmonologists, speech pathologists, gastroenterologists, and geneticists.
Topics: Bronchoscopy; Congenital Abnormalities; Constriction, Pathologic; Humans; Laryngoscopy; Laryngostenosis; Larynx; Rare Diseases; Respiratory System Abnormalities; Syndrome; Trachea; Tracheal Stenosis; Ultrasonography, Prenatal
PubMed: 26277452
DOI: 10.1016/j.prrv.2015.07.001