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Nagoya Journal of Medical Science Nov 2019Congenital esophageal stenosis (CES) is a type of esophageal stenosis, and three histological subtypes (tracheobronchial remnants, fibromuscular thickening or... (Review)
Review
Congenital esophageal stenosis (CES) is a type of esophageal stenosis, and three histological subtypes (tracheobronchial remnants, fibromuscular thickening or fibromuscular stenosis, and membranous webbing or esophageal membrane) are described. Symptoms of CES usually appears with the introduction of the semisolid alimentation. Dysphagia is the most common symptom, but esophageal food impaction, respiratory distress or failure to thrive can be clinical manifestations of CES. Wide spectrum of differential diagnoses leads to delayed definitive diagnosis and appropriate treatment. Depends on hystological subtype of CES, some treatment procedures (dilation or segmental esophageal resection) are recommended, but individually approach is still important in terms of frequency and type of dilation procedures or type of the surgical treatment. Dysphagia can persist after the treatment and a long follow-up period is recommended. In 33% of patients with CES, a different malformations in the digestive system, but also in the other systems, are described.
Topics: Animals; Congenital Abnormalities; Deglutition Disorders; Esophageal Atresia; Esophageal Stenosis; Humans; Models, Biological
PubMed: 31849372
DOI: 10.18999/nagjms.81.4.535 -
JPMA. the Journal of the Pakistan... Apr 2023Coffin-Siris syndrome (CSS) is a rare congenital genetic syndrome, a multisystem disease related to congenital abnormalities, that manifests with abnormal features,...
Coffin-Siris syndrome (CSS) is a rare congenital genetic syndrome, a multisystem disease related to congenital abnormalities, that manifests with abnormal features, causes repeated infections and is associated with developmental delays. Here, we report a newborn male with CSS from Baoding in the Hebei Province of China.
Topics: Infant, Newborn; Humans; Male; Intellectual Disability; Abnormalities, Multiple; Micrognathism; Hand Deformities, Congenital; Neck
PubMed: 37052010
DOI: 10.47391/JPMA.5157 -
Journal of Plastic, Reconstructive &... Oct 2021This study aimed to investigate the factors associated with congenital auricular deformities and evaluate the long-term frequency of their self-correction. Ninety...
This study aimed to investigate the factors associated with congenital auricular deformities and evaluate the long-term frequency of their self-correction. Ninety newborns were enrolled in the study, and data were collected within 2 weeks after birth and at 1 year. The shape of the auricle was classified into seven categories using a digital image. At 2 weeks after birth, several birth-related factors were evaluated in the auricular deformity and normal groups. At 1 year after birth, the images of auricles were compared with the images at birth, and the changes in the auricle shape were investigated. Congenital auricular deformities were observed in 139 out of 180 ears, and the major type noted was helix rim deformity (47 ears), followed by normal ears (41 ears), and cup ears (33 ears). Male sex was found to have a statistically significant association with the occurrence of auricular deformity. In the longitudinal study, among 43 neonates (86 ears) followed-up 12 months later, the self-correction rate was approximately 50%. The normal auricle and prominent ear increased, helix rim deformity and cup ear decreased significantly. The prognosis of deformity varied depending on the type of deformity. Considering the low self-correction rate in the prominent and cup ears, newborns with these deformities might be recommended to undergo management such as auricle molding technique, as required.
Topics: Congenital Abnormalities; Ear Auricle; Female; Humans; Infant; Infant, Newborn; Longitudinal Studies; Male; Remission, Spontaneous; Sex Factors
PubMed: 33972198
DOI: 10.1016/j.bjps.2021.03.023 -
Pediatric Research Nov 2019Congenital anomalies cause ~7% of all neonatal deaths, many of which have no identified pathophysiological cause. Because accurate and robust laboratory tests are... (Review)
Review
Congenital anomalies cause ~7% of all neonatal deaths, many of which have no identified pathophysiological cause. Because accurate and robust laboratory tests are unavailable for most birth defects, physicians rely on imaging such as ultrasound and MRI. Biomarkers from human body fluids are considered a powerful diagnostic tool to assess human disease and health as it mirrors an individual's condition. Minimally invasive 'liquid biopsies' from blood samples are highly valuable for diagnosis, prognosis, risk assessment, and treatment of many conditions. Recent large-scale analysis ('omics') have enabled researchers to identify novel biomarkers in different areas. To accurately facilitate the early detection of congenital anomalies, the identification of biomarkers from maternal plasma should be promoted. This approach will uncover new opportunities in prenatal diagnosing and likely lead to a better understanding of the pathogenesis of congenital anomalies.
Topics: Biomarkers; Body Fluids; Congenital Abnormalities; Female; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 31091529
DOI: 10.1038/s41390-019-0429-1 -
International Journal of Pediatric... Aug 2020Underdevelopment of the nose is a wide spectrum entity ranges from partial absence of the nose to congenital arrhinia (CA). CA is the congenital absence of the external... (Review)
Review
INTRODUCTION
Underdevelopment of the nose is a wide spectrum entity ranges from partial absence of the nose to congenital arrhinia (CA). CA is the congenital absence of the external nose, nasal cavities, and/or nasal nostrils±olfactory apparatus, and is an extremely rare entity as less than 50 cases reported in the literature. CA can be isolated and idiopathic in origin or be a part of genetic-linked certain syndromes. Of note, the isolated CA can be inherited as an autosomal dominant condition with incomplete penetrance.
PRESENTATION OF CASE
We report a 13-month-old Palestinian female patient with isolated CA complicated with recurrent lower and upper respiratory tract infections (URTI). The family history is significant for the mother with incomplete and uncomplicated underdevelopment of the external nose and nasal nostrils. The patient uses a tracheostomy to breathe and is waiting for the optimal age for surgical correction. In addition, we reviewed the available literature using PubMed and summarized all CA cases reported from 2016 to 2019 since two studies had presented the literature before 2016, and presented them in a very comprehensive table.
DISCUSSION
CA is largely idiopathic and not well understood. Although CA can be inherited and runs in families with incomplete penetrance, no causative genetic abnormalities had been found in most of the reported cases. CA frequently presents with upper airway obstruction and respiratory distress, recurrent lower and URTI, and feeding difficulties. CA is managed initially with tracheostomy and should be followed by a surgical correction at the appropriate age.
CONCLUSION
CA may be sporadic, familial, or a part of a syndrome. CA carries a significant rate of morbidity and mortality and a tracheostomy should be inserted initially to alleviate the early CA complications and followed by surgical reconstruction when the patient reaches the age of preschool/school age. More studies are required to determine CA inheritance.
Topics: Congenital Abnormalities; Female; Humans; Infant; Mothers; Nose; Nose Diseases; Plastic Surgery Procedures; Recurrence; Respiratory Distress Syndrome, Newborn; Respiratory Tract Infections; Tracheostomy
PubMed: 32417666
DOI: 10.1016/j.ijporl.2020.110083 -
Folia Medica Oct 2021Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder affecting female reproductive system (agenesis of uterus and upper part of vagina) alone...
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder affecting female reproductive system (agenesis of uterus and upper part of vagina) alone (type 1), or associated with abnormalities of other organs and systems (type 2). We report a case of a 21-year-old woman diagnosed with MRKH due to primary amenorrhea during puberty and operated for formation of neovagina. She was admitted to the Department of Urology with abdominal pain and oligoanuria, where the physical examination and imaging studies revealed a malformation of the upper urinary tract: a solitary dystopia of kidney in the pelvis with stenosis of ureteropelvic junction and hydronephrosis. After initial desobstruction with a DJ stent, a pyeloplasty was performed. Females with primary amenorrhea are often delayed with the diagnosis of potential MRKH syndrome, and those diagnosed with the syndrome should undergo detailed examination to exclude concomitant urinary abnormalities.
Topics: 46, XX Disorders of Sex Development; Adult; Amenorrhea; Congenital Abnormalities; Female; Humans; Kidney; Mullerian Ducts; Urogenital Abnormalities; Young Adult
PubMed: 35851218
DOI: 10.3897/folmed.63.e63325 -
Advances in Genetics 2020Potassium channels are a heterogeneous group of membrane-bound proteins, whose functions support a diverse range of biological processes. Genetic disorders arising from... (Review)
Review
Potassium channels are a heterogeneous group of membrane-bound proteins, whose functions support a diverse range of biological processes. Genetic disorders arising from mutations in potassium channels are classically recognized by symptoms arising from acute channel dysfunction, such as periodic paralysis, ataxia, seizures, or cardiac conduction abnormalities, often in a patient with otherwise normal examination findings. In this chapter, we review a distinct subgroup of rare potassium channelopathies whose presentations are instead suggestive of a developmental disorder, with features including intellectual disability, craniofacial dysmorphism or other physical anomalies. Known conditions within this subgroup are: Andersen-Tawil syndrome, Birk-Barel syndrome, Cantú syndrome, Keppen-Lubinsky syndrome, Temple-Baraitser syndrome, Zimmerman-Laband syndrome and a very similar disorder called Bauer-Tartaglia or FHEIG syndrome. Ion channelopathies are unlikely to be routinely considered in the differential diagnosis of children presenting with developmental concerns, and so detailed description and photographs of the clinical phenotype are provided to aid recognition. For several of these disorders, functional characterization of the genetic mutations responsible has led to identification of candidate therapies, including drugs already commonly used for other indications, which adds further impetus to their prompt recognition. Together, these cases illustrate the potential for mechanistic insights gained from genetic diagnosis to drive translational work toward targeted, disease-modifying therapies for rare disorders.
Topics: Abnormalities, Multiple; Andersen Syndrome; Cardiomegaly; Channelopathies; Child; Craniofacial Abnormalities; Fibromatosis, Gingival; Hallux; Hand Deformities, Congenital; Humans; Hypertrichosis; Intellectual Disability; Muscle Hypotonia; Nails, Malformed; Osteochondrodysplasias; Potassium Channels; Thumb
PubMed: 32560786
DOI: 10.1016/bs.adgen.2020.03.002 -
The Surgical Clinics of North America Oct 2022Pectus excavatum, carinatum, and arcuatum are 3 developmental chest wall deformities that may evolve during childhood and cause cardiac and/or pulmonary compression.... (Review)
Review
Pectus excavatum, carinatum, and arcuatum are 3 developmental chest wall deformities that may evolve during childhood and cause cardiac and/or pulmonary compression. Evaluation may include nonsurgical subspecialty consultations and imaging studies. Treatment may be nonoperative or surgical. Long-term follow-up studies have identified rare complications of traditional open repair. Routine in utero ultrasonography has led to increasing identification of congenital lung anomalies, including congenital cystic adenomatoid malformations, pulmonary sequestrations, and bronchogenic cysts. Short-term follow-up studies have suggested that some lesions may regress spontaneously. Minimally invasive techniques, including thoracoscopy, may allow for early surgical resection with less morbidity than traditional open surgery.
Topics: Cystic Adenomatoid Malformation of Lung, Congenital; Funnel Chest; Humans; Lung; Surgeons; Thoracic Wall
PubMed: 36209753
DOI: 10.1016/j.suc.2022.07.017 -
BJOG : An International Journal of... Oct 2019Congenital uterovaginal aplasia commonly occurs in Mayer-Rokitansky-Küster-Hauser syndrome. Various methods of neovagina creation exist, including nonsurgical... (Review)
Review
Congenital uterovaginal aplasia commonly occurs in Mayer-Rokitansky-Küster-Hauser syndrome. Various methods of neovagina creation exist, including nonsurgical self-dilation, surgical dilation, and surgical procedures involving skin or intestinal transplants. Subsequent uterus transplantation is necessary to enable pregnancy. We review the main characteristics, advantages, and disadvantages of established neovagina creation methods and discuss their suitability regarding subsequent uterus transplantation. Suitability criteria include sufficient vaginal length, absence of previous major intra-abdominal surgery, a natural vaginal axis, and a natural vaginal epithelium. In conclusion, Vecchietti-based laparoscopically assisted neovagina creation provides ideal functional conditions for uterus transplantation. Nonsurgical self-dilation and Wharton-Sheares-George vaginoplasty may also be suitable. TWEETABLE ABSTRACT: This review discusses the main advantages and disadvantages of neovagina creation methods with regard to subsequent uterus transplantation.
Topics: 46, XX Disorders of Sex Development; Congenital Abnormalities; Female; Gynecologic Surgical Procedures; Humans; Mullerian Ducts; Patient Selection; Preoperative Care; Surgically-Created Structures; Transplants; Treatment Outcome; Uterus; Vagina
PubMed: 31338951
DOI: 10.1111/1471-0528.15888 -
BMC Medical Genomics Oct 2023Whole-exome sequencing (WES) significantly improves the diagnosis of the etiology of fetal structural anomalies. This study aims to evaluate the diagnostic value of...
BACKGROUND
Whole-exome sequencing (WES) significantly improves the diagnosis of the etiology of fetal structural anomalies. This study aims to evaluate the diagnostic value of prenatal WES and to investigate the pathogenic variants in structurally abnormal fetuses.
METHODS
We recruited 144 fetuses with structural anomalies between 14 and 2020 and 15 December 2021 in the study. Genetic screening was performed by WES combined with karyotyping and chromosomal microarray analysis. The molecular diagnostic yield of prenatal WES for each type of fetal structural anomaly and the identified pathogenic genes and mutations were reported.
RESULTS
In this study, we retrospectively analyzed the clinical and genetic data of 145 structurally anomalous fetuses. These cases were classified into 9 phenotypic classes based on antenatal ultrasound findings. Thirty-eight pathogenic variants in 24 genes were identified in 35 of the 145 cases, including 14 novel variants in 13 genes (EP300, MYH3, TSC2, MMP9, CPLANE1, INVS, COL1A1, EYA1, TTC21B, MKS1, COL11A2, PDHA1 and L1CAM). Five additional pathogenic variants were classified as incidental findings. Our study showed that the overall diagnosis rate of WES was 28.1% (27/96) in the parent-fetus trio cases and 16.3% (8/49) in the proband-only cases. Fetuses with musculoskeletal anomalies had the highest diagnostic yield (51.4%, 19/37). In addition, FGFR3 and COL1A1 were the most common pathogenic genes.
CONCLUSIONS
Our work expands the mutation spectrum of the genes associated with fetal structural anomalies and provides valuable information for future parental genetic counselling and pregnancy management of the structurally anomalous fetuses.
Topics: Female; Humans; Pregnancy; East Asian People; Exome Sequencing; Fetus; Pregnancy Trimester, First; Prenatal Diagnosis; Retrospective Studies; Ultrasonography, Prenatal; Congenital Abnormalities
PubMed: 37880672
DOI: 10.1186/s12920-023-01697-3