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Paediatric Respiratory Reviews Feb 2020A laryngotracheoesophageal cleft (LC) is a rare congenital anomaly of the upper aerodigestive tract resulting from the absence of fusion of the posterior cricoid lamina,... (Review)
Review
A laryngotracheoesophageal cleft (LC) is a rare congenital anomaly of the upper aerodigestive tract resulting from the absence of fusion of the posterior cricoid lamina, which affects an abnormal communication between the larynx, trachea and esophagus. The genetic etiology of LC remains elusive. The involvement of genetic factors in the development of LC is suggested by reports of familial occurrence, and the increased prevalence of component features among first-degree relatives of affected individuals and murine knockout models. No consistent pattern of inheritance has been found in nonsyndromic patients, except for cases associated with described syndromes. Once the syndrome related to the laryngeal cleft is considered, an active search for the cleft must be initiated. The genetic evaluation of patients with LCs should be guided by the type and location of the malformation, specific medical history and a detailed physical examination. The application of genetic approaches, such as microarrays and exome sequencing might lead to elucidating the etiology of LCs.
Topics: Anal Canal; Arthrogryposis; CHARGE Syndrome; Congenital Abnormalities; Craniofacial Abnormalities; DiGeorge Syndrome; Ear; Ear Diseases; Esophagus; Heart Defects, Congenital; Humans; Hypertelorism; Hypopituitarism; Hypospadias; Intellectual Disability; Kidney; Larynx; Limb Deformities, Congenital; Pallister-Hall Syndrome; Spine; Trachea
PubMed: 31734186
DOI: 10.1016/j.prrv.2019.09.004 -
The Journal of Hand Surgery, European... Jun 2017The Oberg, Manske, Tonkin Classification of congenital anomalies of the hand and upper limb utilizes dysmorphological concepts to distinguish Malformations from... (Review)
Review
The Oberg, Manske, Tonkin Classification of congenital anomalies of the hand and upper limb utilizes dysmorphological concepts to distinguish Malformations from Deformations and Dysplasias. Malformations are abnormalities of Formation and/or Differentiation of tissues. Deformations are abnormalities which occur after tissue is formed. Dysplasias are abnormalities which result from a lack of normal organization of cells into tissue. Malformations are sub-grouped according to whether the abnormality affects the hand alone or the whole of the upper limb; and according to which, if any, of the three main axes of development are primarily involved. It is not possible to satisfy all criteria which would define an ideal classification. However, this system is practical in that it retains the surgical diagnoses and sub-classifications familiar to surgeons and is easily utilized; it is expandable and may be modified without destroying its structure; it may be used to accumulate prevalence data; and, in the future, gene and chromosomal defects which are identified for specific diagnoses may be incorporated into the system.
Topics: Hand Deformities, Congenital; Humans; Upper Extremity Deformities, Congenital
PubMed: 28488459
DOI: 10.1177/1753193417690965 -
Radiographics : a Review Publication of... 2018The human face is a complex anatomic structure with an equally complex embryologic development. Derangement of the developmental process can result in various structural... (Review)
Review
The human face is a complex anatomic structure with an equally complex embryologic development. Derangement of the developmental process can result in various structural anomalies, which range from a mainly cosmetic deformity, such as cleft lip, to potentially life-threatening conditions such as arhinia. These anomalies (a) can occur as isolated anomalies; (b) can be associated with intracranial, spinal, or dental anomalies; or (c) can be a part of various syndromes, thus serving as diagnostic clues in such cases. Proper evaluation of fetal facial deformities can help in prognostication, family counseling, and prenatal or early postnatal intervention. Ultrasonography (US) is the first line of investigation in these cases. However, when US does not allow complete evaluation of these anomalies owing to its inherent limitations, magnetic resonance (MR) imaging allows comprehensive evaluation of the anomaly itself and also evaluation of various associations and the treatment approach. The embryology of the fetal facial structures is considered with regard to the MR imaging technique and the MR imaging anatomy. The MR imaging features of various structural anomalies are described and classified into six groups, namely, orofacial clefts, orbital anomalies, nasal anomalies, facial masses, external ear anomalies, and abnormal face shape or profile. Also, the key associations and relevant treatment implications are reviewed. The article provides a "one-stop shop" review of these unique disorders-from basic understanding of the embryology to applying the knowledge in clinical practice, helping the interprofessional team and the patients alike. RSNA, 2018.
Topics: Congenital Abnormalities; Diagnosis, Differential; Face; Female; Humans; Magnetic Resonance Imaging; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 29652578
DOI: 10.1148/rg.2018170142 -
Birth Defects Research Jun 2017The most impressive phenotypic appearance of sirenomelia is the presence of a 180°-rotated, axially positioned, single lower limb. Associated gastrointestinal and... (Review)
Review
The most impressive phenotypic appearance of sirenomelia is the presence of a 180°-rotated, axially positioned, single lower limb. Associated gastrointestinal and genitourinary anomalies are almost always present. This rare anomaly is still the subject of ongoing controversies concerning its nosology, pathogenesis, and possible genetic etiology. Sirenomelia can be part of a syndromic continuum, overlapping with other complex conditions including caudal dysgenesis and VATER/VACTERL/VACTERL-H associations, which could all be part of a heterogeneous spectrum, and originate from an early defect in blastogenesis. It is imaginable that different "primary field defects," whether or not genetically based, induce a spectrum of caudal malformations. In the current study, we review the contemporary hypotheses and conceptual approaches regarding the etiology and pathogenesis of sirenomelia, especially in the context of concomitant conditions. To expand on the latter, we included the external and internal dysmorphology of one third trimester sirenomelic fetus from our anatomical museum collection, in which multiple concomitant but discordant anomalies were observed compared with classic sirenomelia, and was diagnosed as VACTERL-H association with sirenomelia. Birth Defects Research 109:791-804, 2017. © 2017 The Authors. Birth Defects Research Published by Wiley Periodicals, Inc.
Topics: Abnormalities, Multiple; Anal Canal; Cardiovascular Abnormalities; Digestive System Abnormalities; Ectromelia; Esophagus; Fetus; Genetic Diseases, X-Linked; Heart Defects, Congenital; Humans; Hydrocephalus; Kidney; Limb Deformities, Congenital; Musculoskeletal Abnormalities; Spine; Trachea; Urogenital Abnormalities
PubMed: 28509418
DOI: 10.1002/bdr2.1049 -
JAAPA : Official Journal of the... Nov 2018Stridor is a high-pitched respiratory sound that signals upper airway obstruction. It can be encountered by clinicians in a variety of clinical settings and requires a... (Review)
Review
Stridor is a high-pitched respiratory sound that signals upper airway obstruction. It can be encountered by clinicians in a variety of clinical settings and requires a team-based, interdisciplinary approach. Early recognition is crucial, as the differential diagnosis can be broad, and causes range from benign to life-threatening. This article reviews the most commonly encountered causes of chronic congenital stridor in infants, focusing on the diagnostic approach, pathophysiology, clinical presentation, and management strategies.
Topics: Chronic Disease; Congenital Abnormalities; Diagnosis, Differential; Early Diagnosis; Gastroesophageal Reflux; Humans; Infant, Newborn; Laryngomalacia; Laryngostenosis; Larynx; Patient Care Team; Respiratory Sounds; Tracheomalacia; Vocal Cord Paralysis
PubMed: 30358678
DOI: 10.1097/01.JAA.0000546480.64441.af -
Journal of the American Academy of... Apr 2020Sprengel deformity is the main congenital shoulder deformity seen in children. First described by Otto Sprengel in 1891, it consists of a high-riding, dysplastic, and...
UNLABELLED
Sprengel deformity is the main congenital shoulder deformity seen in children. First described by Otto Sprengel in 1891, it consists of a high-riding, dysplastic, and malrotated scapula leading to functional and cosmetic impairments. It has never been reported in siblings.
CASE PRESENTATION
Two sisters, 8 and 9 years old, presented for an evaluation of atraumatic limitation in the shoulder range of motion and neck webbing with an unknown family history. Physical examination revealed a small high-riding scapula, webbed neck, and painless limitation in shoulder abduction (<70°) and flexion (<80°). The 9-year-old sibling had a bilateral shoulder involvement, and the younger had unilateral. Imaging revealed bony and fibrous omovertebral connections between the dysplastic scapulas and cervical spine along with Klippel-Feil deformities. Both sisters underwent scapula repositioning via a modified Woodward procedure. The omovertebral connection was resected followed by scapula derotation and inferior migration. Both had a dramatic improvement in cosmesis and near-complete restoration of shoulder function at follow-up.
CONCLUSIONS
Although uncommon, Sprengel deformity results in notable derangement of shoulder function. If untreated, children experience difficulty with most overhead activities and often have cosmetic reports. Although no previous genetic link has been identified, its presence in biological sisters suggests that more research is needed.
Topics: Cervical Vertebrae; Child; Congenital Abnormalities; Female; Humans; Scapula; Shoulder Joint; Siblings
PubMed: 32377613
DOI: 10.5435/JAAOSGlobal-D-19-00120 -
The Veterinary Clinics of North... Nov 2020Whether poisoned by grazing toxic plants or by eating feeds that are contaminated by toxic plants, affected livestock often have compromised reproductive function... (Review)
Review
Whether poisoned by grazing toxic plants or by eating feeds that are contaminated by toxic plants, affected livestock often have compromised reproductive function including infertility, abortion, and fetal deformities. Certainly all diagnostic tools-field studies, clinical signs, gross and microscopic pathology as well as chemical identification of plant and plant toxins in animal samples-are essential to make an accurate diagnosis, to develop intervening management strategies and to improve the reproductive performance. The objectives of this review are to briefly introduce toxic plants that are reproductive toxins, abortifacients, or teratogens.
Topics: Abortifacient Agents; Animals; Congenital Abnormalities; Female; Genital Diseases, Female; Genital Diseases, Male; Infertility; Livestock; Male; Plant Poisoning; Plants, Toxic
PubMed: 33032703
DOI: 10.1016/j.cvfa.2020.08.004 -
The Journal of Hand Surgery Feb 2018Poland syndrome was first described as a deficiency of the pectoral muscle with ipsilateral symbrachydactyly. Currently, numerous case reports describe variations of... (Review)
Review
PURPOSE
Poland syndrome was first described as a deficiency of the pectoral muscle with ipsilateral symbrachydactyly. Currently, numerous case reports describe variations of Poland syndrome in which pectoral muscle deficiency is often used as the only defining criterion. However, more syndromes can present with pectoral muscle deficiency. The aim of this review is to illustrate the diversity of the phenotypic spectrum of Poland syndrome and to create more awareness for alternative diagnoses in pectoral muscle deficiency.
METHODS
A systematic literature search was performed. Articles containing phenotypical descriptions of Poland syndrome were included. Data extraction included number of patients, sex, familial occurrence, and the definition of Poland syndrome used. In addition, hand deformities, thoracic deformities, and other deformities in each patient were recorded. Alternative syndrome diagnoses were identified in patients with a combination of hand, thorax, and other deformities.
RESULTS
One hundred-and-thirty-six articles were included, describing 627 patients. Ten different definitions of Poland syndrome were utilized. In 58% of the cases, an upper extremity deformity was found and 43% of the cases had an associated deformity. Classic Poland syndrome was seen in 29%. Fifty-seven percent of the patients with a pectoral malformation, a hand malformation, and another deformity had at least 1feature that matched an alternative syndrome.
CONCLUSIONS
Pectoral muscle hypoplasia is not distinctive for Poland syndrome alone but is also present in syndromes with other associated anomalies with a recognized genetic cause. Therefore, in patients with an atypical phenotype, we recommend considering other diagnoses and/or syndromes before diagnosing a patient with Poland syndrome. This can prevent diagnostic and prognostic errors.
CLINICAL RELEVANCE
Differentiating Poland syndrome from the alternative diagnoses has serious consequences for the patient and their family in terms of inheritance and possible related anomalies.
Topics: Abnormalities, Multiple; Diagnosis, Differential; Humans; Pectoralis Muscles; Phenotype; Poland Syndrome; Syndactyly; Upper Extremity Deformities, Congenital
PubMed: 29033291
DOI: 10.1016/j.jhsa.2017.08.029 -
Foot and Ankle Clinics Sep 2021Arthrodesis of the hindfoot is typically used for the correction of severe and arthritic progressive collapsing foot deformity. Concomitant bony or soft tissue... (Review)
Review
Arthrodesis of the hindfoot is typically used for the correction of severe and arthritic progressive collapsing foot deformity. Concomitant bony or soft tissue procedures may be helpful in patients with congenital abnormalities including the ball-and-socket ankle or congenital vertical talus. Dysplasia of the hindfoot bones may be more common than previously recognized, and corrective procedures or alterations in technique may need to be performed during hindfoot arthrodesis to account for bony deformity. Intraarticular osteotomies, extraarticular osteotomies, tendon lengthening, and tendon transfer procedures may be used in specific instances to aid in deformity correction and improve overall function.
Topics: Arthrodesis; Flatfoot; Foot Deformities, Acquired; Humans; Osteotomy; Tendon Transfer
PubMed: 34332738
DOI: 10.1016/j.fcl.2021.06.006 -
Paediatric Respiratory Reviews Sep 2014The thorax consists of the rib cage and the respiratory muscles. It houses and protects the various intrathoracic organs such as the lungs, heart, vessels, esophagus,... (Review)
Review
The thorax consists of the rib cage and the respiratory muscles. It houses and protects the various intrathoracic organs such as the lungs, heart, vessels, esophagus, nerves etc. It also serves as the so-called "respiratory pump" that generates the movement of air into the lungs while it prevents their total collapse during exhalation. In order to be performed these functions depend on the structural and functional integrity of the rib cage and of the respiratory muscles. Any condition (congenital or acquired) that may affect either one of these components is going to have serious implications on the function of the other. Furthermore, when these abnormalities occur early in life, they may affect the growth of the lungs themselves. The following article reviews the physiology of the respiratory pump, provides a comprehensive list of conditions that affect the thorax and describes their effect(s) on lung growth and function.
Topics: Child; Congenital Abnormalities; Humans; Respiratory System; Thoracic Wall
PubMed: 24462760
DOI: 10.1016/j.prrv.2013.12.003