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The American Journal of Clinical... Jun 2010
Topics: Congenital Abnormalities; Female; Humans; Infant, Newborn; Obesity; Pregnancy; Pregnancy Complications
PubMed: 20427732
DOI: 10.3945/ajcn.2010.29666 -
JAMA Otolaryngology-- Head & Neck... Jul 2017Referral to a neurologist and imaging play important roles in the management of laryngeal cleft. Swallowing involves a complex series of neuromuscular interactions, and...
IMPORTANCE
Referral to a neurologist and imaging play important roles in the management of laryngeal cleft. Swallowing involves a complex series of neuromuscular interactions, and aspiration can result from anatomical causes (eg, laryngeal cleft), neuromuscular disorders, or some combination thereof. To date, no protocols or guidelines exist to identify which patients with laryngeal cleft should undergo neuroimaging studies and/or consultation with a neurologist.
OBJECTIVE
To establish guidelines for neurologic evaluation and imaging techniques to identify or rule out neuromuscular dysfunction in children with laryngeal cleft.
DESIGN
Retrospective review of the medical records of 242 patients who were diagnosed with laryngeal cleft at a tertiary children's hospital between March 1, 1998, and July 6, 2015. Based on this review, an algorithm to guide management of laryngeal cleft is proposed.
MAIN OUTCOMES AND MEASURES
Data extracted from patient medical records included the type of laryngeal cleft, details of neurologic referral, results of neuroimaging studies, and objective swallow study outcomes.
RESULTS
Of the 242 patients, 142 were male and 100 were female. Mean age at the time of data analysis was 8.7 years (range, 10 months to 25 years), and there were 164 type I clefts, 64 type II, 13 type III, and 1 type IV. In all, 86 patients (35.5%) were referred to a neurologist; among these, 33 (38.4%) had examination findings indicative of neuromuscular dysfunction or dyscoordination (eg, hypotonia, spasticity, or weakness). Abnormal findings were identified in 32 of 50 patients (64.0%) who underwent brain imaging. Neurosurgical intervention was necessary in 3 patients diagnosed with Chiari malformation and in 1 patient with an intraventricular tumor detected on neuroimaging.
CONCLUSIONS AND RELEVANCE
A substantial proportion of patients with laryngeal cleft have coexistent neuromuscular dysfunction as a likely contributing factor to dysphagia and aspiration. Collaboration with a neurologist and appropriate neuroimaging may provide diagnostic and prognostic information in this subset of patients. At times, imaging will identify critical congenital malformations that require surgical treatment.
Topics: Adolescent; Algorithms; Child; Child, Preschool; Congenital Abnormalities; Female; Humans; Infant; Larynx; Male; Neuroimaging; Neurologic Examination; Referral and Consultation; Retrospective Studies; Young Adult
PubMed: 28384788
DOI: 10.1001/jamaoto.2016.4735 -
HPB : the Official Journal of the... May 2018Circumportal pancreas (CP) is an anatomical anomaly in the form of abnormal parenchymal fusion between the uncinate process and the pancreatic body, and it requires an...
BACKGROUND
Circumportal pancreas (CP) is an anatomical anomaly in the form of abnormal parenchymal fusion between the uncinate process and the pancreatic body, and it requires an additional parenchymal dissection during pancreaticoduodenectomy (PD). This study aimed to investigate the prevalence of CP in PD and to evaluate the incidence of postoperative pancreatic fistula (POPF) among CP patients.
METHODS
Patients who underwent PD from 2002 to 2012 (n = 552) were included. Operative records and preoperative images were independently reviewed to identify the presence of CP. The incidence of POPF was compared between CP and non-CP patients and was evaluated via multivariate analysis.
RESULTS
CP was confirmed from operative records in 7 (1.3%) patients, and abnormal parenchymal fusion was identified from preoperative images in 8 (1.4%) patients. The incidence of POPF was significantly higher in CP patients than in non-CP patients (71% vs 32%, P = 0.039). On multivariate analysis, CP was an independent predictive factor for POPF (odds ratio, 9.97; 95% confidence interval, 1.76-56.6; P = 0.009).
DISCUSSION
Surgeons should heed the presence of CP in PD because this rare anomaly requires an additional parenchymal dissection and may increase the incidence of POPF.
Topics: Adult; Aged; Aged, 80 and over; Congenital Abnormalities; Databases, Factual; Dissection; Female; Humans; Incidence; Japan; Male; Middle Aged; Pancreas; Pancreatic Fistula; Pancreaticoduodenectomy; Prevalence; Retrospective Studies; Risk Factors; Time Factors; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 29198420
DOI: 10.1016/j.hpb.2017.10.009 -
Circulation Research Mar 2017
Topics: Adult; Biomedical Research; Congenital Abnormalities; Heart Defects, Congenital; Humans; Infant, Newborn
PubMed: 28302735
DOI: 10.1161/CIRCRESAHA.117.310830 -
American Journal of Medical Genetics.... Sep 2021In this review, we explore evidence that hypoxia in the developing human fetus can lead not only to the more commonly accepted disruptive-type defects, but also patterns... (Review)
Review
In this review, we explore evidence that hypoxia in the developing human fetus can lead not only to the more commonly accepted disruptive-type defects, but also patterns of anomalies that suggest that hypoxia can exert a more classic teratogenic effect, using the brain as one example. We review neuropathology in the context of intrauterine hypoxia, particularly as it relates to carbon monoxide poisoning, in utero strokes, and homozygous alpha-thalassemia. In general, the associated brain injuries resemble those seen with other causes of hypoxic-ischemic injury. Fetal strokes during development usually lead to loss of brain tissue in areas that do not follow a typical embryologic pattern, and therefore are considered disruptions. However, there is also evidence that fetal brain ischemia can cause more classically recognized patterns of abnormal embryonic neuronal migration and organization such as polymicrogyria, cortical dysplasia, or dysgenesis, including select types of focal cortical dysplasia. This study summarizes available literature and evidence to raise clinicians' awareness regarding the association between hypoxia and congenital anomalies, including brain malformations.
Topics: Abnormalities, Multiple; Congenital Abnormalities; Humans; Hypoxia; Teratogenesis; Teratogens
PubMed: 33938618
DOI: 10.1002/ajmg.a.62235 -
Neurology India 2019
Topics: Adolescent; Breast; Breast Diseases; Congenital Abnormalities; Humans; Male; Poland Syndrome
PubMed: 31512674
DOI: 10.4103/0028-3886.266297 -
Journal of Medical Genetics Dec 1975A case of familial brachydactyly is reported.
A case of familial brachydactyly is reported.
Topics: Congenital Abnormalities; Female; Humans; Male; Middle Aged; Pedigree; Thumb
PubMed: 1219123
DOI: 10.1136/jmg.12.4.414 -
BJOG : An International Journal of... Jan 2021Fetal structural anomalies have an impact on fetal mortality and morbidity. Next-generation sequencing (NGS) may be incorporated into clinical pathways for investigation... (Review)
Review
Fetal structural anomalies have an impact on fetal mortality and morbidity. Next-generation sequencing (NGS) may be incorporated into clinical pathways for investigation of paediatric morbidity but can also be used to delineate the prognosis of fetal anomalies. This paper reviews the role of NGS in the investigation of fetal malformations, the literature defining the clinical utility, the technique most commonly used and potential promise and challenges for implementation into clinical practice. Prospective case selection with informative pre-test counselling by multidisciplinary teams is imperative. Regulated laboratory sequencing, bioinformatic pathways with potential variant identification and conservative matching with the phenotype is important. TWEETABLE ABSTRACT: Prenatal exome sequencing in fetal structural anomalies yields diagnostic information in up to 20% of cases.
Topics: Congenital Abnormalities; Female; Fetal Diseases; High-Throughput Nucleotide Sequencing; Humans; Pregnancy; Ultrasonography, Prenatal
PubMed: 32975887
DOI: 10.1111/1471-0528.16533 -
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