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Seminars in Pediatric Surgery Jun 2016
Topics: Child; Congenital Abnormalities; Humans; Pediatrics; Respiratory Tract Diseases; Specialties, Surgical
PubMed: 27301594
DOI: 10.1053/j.sempedsurg.2016.02.001 -
Pediatric Annals Feb 2020Benign congenital anomalies are common in neonates. Some of these common benign congenital anomalies include preauricular pits, sacral dimples, supernumerary digits,... (Review)
Review
Benign congenital anomalies are common in neonates. Some of these common benign congenital anomalies include preauricular pits, sacral dimples, supernumerary digits, accessory nipple, and natal teeth. It is important for health care providers who take care of newborns to recognize these benign anomalies so that unnecessary evaluations and investigations are not performed. However, some of these anomalies may be associated with clinically significant conditions. In this article, we discuss when further evaluation should be performed in babies presenting with these common benign congenital anomalies. [Pediatr Ann. 2020;49(2):e66-e70.].
Topics: Congenital Abnormalities; Humans; Infant, Newborn
PubMed: 32045484
DOI: 10.3928/19382359-20200121-03 -
Radiographics : a Review Publication of... 2016Boyden's nomenclature, which was based on postmortem specimens and published in 1955 prior to the advent of computed tomography (CT), is commonly used to describe the... (Review)
Review
Boyden's nomenclature, which was based on postmortem specimens and published in 1955 prior to the advent of computed tomography (CT), is commonly used to describe the normal segmental bronchial anatomy and various abnormalities. However, several additional anomalies have been recognized since that time, and there is some confusion over the names used to describe these anomalies. Several congenital branching anomalies affecting the trachea, main bronchi, and intermediate bronchus have been reported, all of which can be recognized at chest CT but are often overlooked. These anomalies, which probably occur early in fetal life, can be either supernumerary, with defects occurring at 29-30 days gestation, or displaced, with defects occurring later. Tracheobronchial positional anomalies are often associated with other congenital abnormalities but may be isolated. They often are asymptomatic but can be responsible for pulmonary symptoms such as dyspnea, recurrent pneumonia, and hemoptysis. It is essential that these anomalies are recognized prior to lung resection to avoid complications, especially when video-assisted thoracoscopic surgery is performed. In addition, bronchoscopists should be aware of these anomalies before performing diagnostic or therapeutic bronchoscopic procedures. Awareness of a few key bronchial anatomic principles and use of a lobe-based classification scheme will facilitate recognition of tracheobronchial positional anomalies.
Topics: Abnormalities, Multiple; Bronchi; Bronchoscopy; Congenital Abnormalities; Humans; Imaging, Three-Dimensional; Lung; Respiration Disorders; Thoracic Surgery, Video-Assisted; Tomography, X-Ray Computed; Trachea
PubMed: 26824513
DOI: 10.1148/rg.2016150115 -
American Journal of Medical Genetics.... May 2021Trisomy 13 is one of the three most common aneuploidy syndromes in live-born infants. It is associated with mortality rates as high as 90% within the first year of life,... (Review)
Review
Trisomy 13 is one of the three most common aneuploidy syndromes in live-born infants. It is associated with mortality rates as high as 90% within the first year of life, in large part, due to the high prevalence of severe congenital abnormalities that increase mortality and morbidity. However, life-saving and life-prolonging medical interventions are being performed at a higher rate for these infants, resulting in increased rates of survival. Although cardiac complications have been well described in infants with trisomy 13, these patients also experience other complications such as respiratory, neurological, genitourinary, abdominal, otolaryngologic, and orthopedic complications that can impact their quality of life. The goal of this review is to present a comprehensive description of complications in children with trisomy 13 to aid in the development of monitoring and treatment guidelines for the increasing number of providers who will be caring for these patients throughout their lives. Where the evidence is available, this review presents screening recommendations to allow for more rapid detection and documentation of these complications.
Topics: Aneuploidy; Congenital Abnormalities; Early Medical Intervention; Female; Guidelines as Topic; Humans; Infant, Newborn; Male; Trisomy 13 Syndrome
PubMed: 33709620
DOI: 10.1002/ajmg.a.62133 -
The Veterinary Clinics of North... Aug 2017Flexural deformities in young horses are commonly referred to as contracted tendons, which is a term that is not consistent with what is currently understood about their... (Review)
Review
Flexural deformities in young horses are commonly referred to as contracted tendons, which is a term that is not consistent with what is currently understood about their cause. Flexural deformity of the distal interphalangeal joint can be either congenital (present at birth) or acquired (develop at a later stage of growth typically between 1 and 6 months of age). These 2 manifestations are commonly managed differently depending on the cause, age of onset, severity, duration, complicating factors, and owner expectations. Early recognition and appropriate intervention are essential to ensure that it is not performance limiting.
Topics: Animals; Animals, Newborn; Horse Diseases; Horses; Joint Deformities, Acquired; Limb Deformities, Congenital; Toe Joint
PubMed: 28687093
DOI: 10.1016/j.cveq.2017.03.003 -
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke... Sep 2018Laryngeal clefts as exceptionally rare congenital anomalies have been reported more and more recently. The clinical symptoms and presentations base on degree of clefts... (Review)
Review
Laryngeal clefts as exceptionally rare congenital anomalies have been reported more and more recently. The clinical symptoms and presentations base on degree of clefts and variety of comorbidities. Mild types of clefts may have minimal clinical impact, whereas severe types may be life-threatening and even lead to death before diagnosis. With more attention of these anomalies and advances in endoscopy, the diagnosis, evaluation and surgery of laryngeal clefts have acquired great improvement, especially International Pediatric Otolaryngology Group(IPOG)have reported consensus guidelines on the diagnosis and management of type Ⅰ laryngeal clefts in 2017. This review of laryngeal clefts may be beneficial to decrease missed diagnosis or misdiagnosis and to achieve individual-based treatment.
Topics: Child; Congenital Abnormalities; Consensus; Diagnostic Errors; Humans; Laryngoscopy; Larynx; Otolaryngology
PubMed: 30293271
DOI: 10.3760/cma.j.issn.1673-0860.2018.09.019 -
Journal of Plastic, Reconstructive &... Feb 2021Cryptotia is characterized by an absence of the upper part of the temporoauricular sulcus with the superior third of the auricle buried under the temporal skin. The... (Clinical Trial)
Clinical Trial
INTRODUCTION
Cryptotia is characterized by an absence of the upper part of the temporoauricular sulcus with the superior third of the auricle buried under the temporal skin. The principle of correction of cryptotia is to achieve both a functional and aesthetic ear.
METHODOLOGY
A 4-year prospective study was carried out in a single centre on infants with cryptotia. We introduce a two-staged approach for non-surgical correction of cryptotia and a treatment algorithm based on the age of the patient. In the first stage, we unbury the auricle over 2 weeks. The second stage involves 2 additional weeks of helical moulding to correct the underlying or residual deformation. In our algorithm, patients more than 6 weeks of age undergo only the first stage of cryptotia correction, whereas those less than 6 weeks of age progress to the second stage of treatment.
RESULTS
A total of 5 patients (7 ears) were treated with ages ranging from 1 day to 7 months. Two patients underwent 2-stage treatment and 3 underwent 1-stage treatment. At 1 year, all buried helices remained retracted. Four out of 7 ears treated had "Excellent" outcomes and 3 out of 7 ears had "Good" outcomes. All caregivers were extremely satisfied with the outcomes.
CONCLUSION
This simple and efficacious two-stage technique and algorithm is effective in the correction of cryptotia, even if the treatment is initiated beyond the traditional moulding window in the first six weeks of life. Using this approach, patients with cryptotia benefit by avoiding or simplifying surgical reconstruction in the future.
Topics: Algorithms; Clinical Decision-Making; Congenital Abnormalities; Ear Cartilage; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Prospective Studies; Traction; Treatment Outcome
PubMed: 33071167
DOI: 10.1016/j.bjps.2020.08.133 -
Facial Plastic Surgery Clinics of North... Feb 2018Congenital auricular deformities often can be corrected by neonatal ear molding techniques, which have evolved significantly over a 25-year period with commercially... (Review)
Review
Congenital auricular deformities often can be corrected by neonatal ear molding techniques, which have evolved significantly over a 25-year period with commercially available molding systems now available. Indications for molding and methodology for best optimizing results have been well described in the literature, although recent studies have explored methodology for reduction in the cost of technique and also called for increased awareness among pediatric practitioners of the importance of early institution of therapy.
Topics: Congenital Abnormalities; Ear, External; Humans; Splints; Surgical Fixation Devices
PubMed: 29153185
DOI: 10.1016/j.fsc.2017.09.001 -
American Journal of Medical Genetics.... Dec 2021Robinow syndrome, a rare genetic disorder, is characterized by skeletal dysplasia with, among other anomalies, extremity and hand anomalies. There is locus heterogeneity...
Robinow syndrome, a rare genetic disorder, is characterized by skeletal dysplasia with, among other anomalies, extremity and hand anomalies. There is locus heterogeneity and both dominant and recessive inheritance. A detailed description of associated extremity and hand anomalies does not currently exist due to the rarity of this syndrome. This study seeks to document the hand anomalies present in Robinow syndrome to allow for improved rates of timely and accurate diagnosis. A focused assessment of the extremities and stature was performed using clinical examination and standard photographic images. A total of 13 patients with clinical and molecular diagnosis consistent with dominant Robinow syndrome or recessive Robinow syndrome were evaluated. All patients had limb shortening, the most common of which was mesomelia; however, rhizomelia and micromelia were also seen. These findings are relevant to clinical characterization, particularly as Robinow syndrome has classically been defined as a "mesomelic disorder." A total of eight distinct hand anomalies were identified in 12 patients with both autosomal recessive and dominant forms of Robinow syndrome. One patient did not present with any hand differences. The most common hand findings included brachydactyly, broad thumbs, and clinodactyly. A thorough understanding of the breadth of Robinow syndrome-associated extremity and hand anomalies can aid in early patient identification, improving rates of timely diagnosis and allowing for proactive management of sequelae.
Topics: Abnormalities, Multiple; Adolescent; Child; Child, Preschool; Craniofacial Abnormalities; Dwarfism; Extremities; Female; Hand; Hand Deformities, Congenital; Humans; Limb Deformities, Congenital; Male; Phenotype; Urogenital Abnormalities; Young Adult
PubMed: 32974972
DOI: 10.1002/ajmg.a.61884 -
Birth Defects Research Jan 2018Many different causes of malformations have been established. The surveillance of a consecutive population of births, including stillbirths and elective terminations of...
BACKGROUND
Many different causes of malformations have been established. The surveillance of a consecutive population of births, including stillbirths and elective terminations of pregnancy because of fetal anomalies, can identify each infant with malformations and determine the frequency of the apparent etiologies. This report is a sequel to the first such analysis in the first 10 years of this Active Malformations Surveillance Program (Nelson and Holmes, ).
METHODS
The presence of malformations was determined among 289,365 births over 41 years (1972-2012) at the Brigham and Women's Hospital in Boston. The abnormalities were identified from the review of the examination findings of the pediatricians and consultants and diagnostic testing for the live-born infants and the autopsies of the fetuses in elective terminations and stillbirths.
RESULTS
A total of 7020 (2.4%) infants and fetuses with one or more malformations were identified with these apparent etiologies in 26.6%: Mendelian disorders, including infants with postaxial polydactyly, type B; chromosome abnormalities; vascular disruption; complications of monozygous twinning; and environmental factors. The malformations of unknown etiology were a much larger group.
CONCLUSION
While several causes of malformations have been identified, many remain unexplained. Combining the ascertainment in a future surveillance programs with genome sequencing and chromosome microarray analysis will increase significantly the number of malformations attributed to genetic mechanisms. Birth Defects Research 110:87-91, 2018.© 2018 Wiley Periodicals, Inc.
Topics: Boston; Chromosome Aberrations; Congenital Abnormalities; Female; Fetal Development; Fetus; Humans; Infectious Disease Transmission, Vertical; Maternal Exposure; Pregnancy; Prenatal Diagnosis
PubMed: 29377643
DOI: 10.1002/bdr2.1105