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Pediatric Radiology Apr 2022Although radiographs are generally performed in the neonatal period to evaluate for causes of respiratory distress or to evaluate line placement, close attention to the... (Review)
Review
Although radiographs are generally performed in the neonatal period to evaluate for causes of respiratory distress or to evaluate line placement, close attention to the osseous structures can provide important clues to an underlying diagnosis. Although segmentation anomalies can be random, they are frequently associated with more complex entities such as VACTERL association. A butterfly vertebral body can hint at a possible diagnosis of Alagille syndrome even before jaundice develops in an infant with a murmur. Close evaluation of the sacrum can identify abnormalities that point to caudal regression or Currarino triad. Other classic musculoskeletal abnormalities in the extremities are readily apparent on physical exam but require radiographic evaluation to define anatomy. Diagnoses such as congenital pseudoarthrosis of the clavicle, Apert syndrome, constriction band syndrome, and proximal focal femoral deficiency have pathognomonic imaging findings. Given that treatment for these is usually delayed until later in life, extremity imaging might not occur in the neonatal period.
Topics: Anal Canal; Digestive System Abnormalities; Humans; Infant; Infant, Newborn; Limb Deformities, Congenital; Musculoskeletal Abnormalities; Sacrum
PubMed: 34731287
DOI: 10.1007/s00247-021-05200-x -
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 -
Journal of Medical Genetics Dec 2020Motor kinesins are a family of evolutionary conserved proteins involved in intracellular trafficking of various cargoes, first described in the context of axonal... (Review)
Review
Motor kinesins are a family of evolutionary conserved proteins involved in intracellular trafficking of various cargoes, first described in the context of axonal transport. They were discovered to have a key importance in cell-cycle dynamics and progression, including chromosomal condensation and alignment, spindle formation and cytokinesis, as well as ciliogenesis and cilia function. Recent evidence suggests that impairment of kinesins is associated with a variety of human diseases consistent with their functions and evolutionary conservation. Through the advent of gene identification using genome-wide sequencing approaches, their role in monogenic disorders now emerges, particularly for birth defects, in isolated as well as multiple congenital anomalies. We can observe recurrent phenotypical themes such as microcephaly, certain brain anomalies, and anomalies of the kidney and urinary tract, as well as syndromic phenotypes reminiscent of ciliopathies. Together with the molecular and functional data, we suggest understanding these 'kinesinopathies' as a recognisable entity with potential value for research approaches and clinical care.
Topics: Brain; Cilia; Ciliopathies; Congenital Abnormalities; Genetic Predisposition to Disease; Humans; Kidney; Kinesins; Microcephaly; Multigene Family; Phenotype; Urinary Tract
PubMed: 32430361
DOI: 10.1136/jmedgenet-2019-106769 -
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 -
Congenital Anomalies Jan 2021We report population prevalence rates of neural tube defects (NDT) and microcephaly (MIC) as well as levels of incorporated Cs137 by pregnant women in two areas of the...
We report population prevalence rates of neural tube defects (NDT) and microcephaly (MIC) as well as levels of incorporated Cs137 by pregnant women in two areas of the Rivne Province of Ukraine, a northern half (Polissia) polluted by Chornobyl radiation and not-Polissia areas. Monitoring of congenital malformations was conducted with adherence to methods adopted by a European surveillance network (EUROCAT). Incorporated Cs137 (Bq/kg) by pregnant women residing in the Polissia and not-Polissia areas were obtained concurrently with prenatal ultrasound examinations. In Polissia, the incorporated Cs137 levels by pregnant women as well as the prevalence rates of NDTs and MIC are significantly higher than in not-Polissia. In Polissia, the prevalence rates of NDTs and MIC are among the highest in Europe. The debate concerning the teratogenic impact of chronic exposures to low levels of ionizing radiation was re-ignited by our 2010 report. Health agencies uphold the notion that exposure to Chornobyl radiation levels are too low to be teratogenic, which is inconsistent with our observations. Further investigations in Rivne by international teams can, we believe, contribute facts to the ongoing debate. Our monitoring system, experience and data can facilitate concurrent investigations of teratogenic risks from exposures to other sources of ionizing radiation, alcohol, folate, and zinc deficiencies, among other risk factors. Study of genomic impacts can likewise be undertaken.
Topics: Blood Cell Count; Cesium Radioisotopes; Chernobyl Nuclear Accident; Congenital Abnormalities; Female; Geography, Medical; Humans; Microcephaly; Neural Tube Defects; Pregnancy; Prevalence; Public Health Surveillance; Ukraine
PubMed: 33405251
DOI: 10.1111/cga.12388 -
European Journal of Medical Genetics Mar 2021Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome is a sex development disorder that affects 1 in every 4500 46, XX live births. At least a subset of MRKH syndrome is... (Review)
Review
Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome is a sex development disorder that affects 1 in every 4500 46, XX live births. At least a subset of MRKH syndrome is genetically related to which various candidate genes have been identified. The growth regulation by estrogen in breast cancer 1-like gene (GREB1L) is an androgen-regulated gene reported to be a co-activator of the retinoic acid receptor gene (RAR). Thus expression levels of GREB1L have implications on renal system cellular differentiation, morphogenesis, and homeostasis in vertebrates. Variants of GREB1L have been reported in familial and sporadic MRKH Syndrome and more importantly, in a three-generation family ofMRKH syndrome propositae. Much the same way, Mutants of GREB1L have also been identified in isolated bilateral renal agenesis and deafness both of which are extra-genital tract anomalies in MRKH type 2. Again, renal agenesis transgenic mice have been produced from an E13.5 CRISPR/cas9 GREB1L mutagenesis. Though no GREB1L mutation has been reported in cardiac malformation, there is evidence that GREB1L is involved in ventricular development. Here, we intorigate evidence that projects GREB1L as a candidate gene of Mayer-Rokitansky-Küster-Hauser Syndrome and propose that functional validation analysis to that effect is imparative.
Topics: 46, XX Disorders of Sex Development; Animals; Congenital Abnormalities; Humans; Mullerian Ducts; Mutation; Neoplasm Proteins; Phenotype
PubMed: 33548512
DOI: 10.1016/j.ejmg.2021.104158 -
The Cleft Palate-craniofacial Journal :... Jul 2023Congenital clefts of the maxillofacial area still remain of current interest in reconstructive facial surgery. While their frequency grows up, the issues of effective...
Congenital clefts of the maxillofacial area still remain of current interest in reconstructive facial surgery. While their frequency grows up, the issues of effective surgical primary and secondary interventions are not completely solved yet. The article presents the main problems associated with the elimination of the deformations and our modifications of methods for their correction. The study was conducted based on the Centre [2] and the University [1], Russian Federation. The project was carried out within the framework of the state assignment of the Ministry of Science and Higher Education of the Russian Federation, mnemocode 0669-2020-0008. The research is based on the results of complex treatment of 112 patients with unilateral clefts of the upper lip and palate from the age of 5 to 34 years, 68 patients of them also carried out secondary surgeries. The methods of performing rhinocheiloplasty by moving a "sliding" flap, of eliminating a ctenoid plica appearing after primary surgeries are presented, described, explained, and substantiated in the article. The proposed methods gave a good or satisfactory result in 92.8% of the operated patients, which allows them to be considered effective for eliminating congenital and postoperative nasal deformities in patients with facial clefts. The surgical methods of eliminating congenital and postoperative deformities of the nose in patients with facial clefts should be modified in accordance with the nature of the most frequently arising shortcomings of the surgical stages of correction.
Topics: Humans; Child, Preschool; Child; Adolescent; Young Adult; Adult; Cleft Lip; Plastic Surgery Procedures; Nose; Rhinoplasty; Cleft Palate
PubMed: 35769046
DOI: 10.1177/10556656221099816 -
Current Opinion in Pediatrics Feb 2020The purpose of this review is to describe various forms of hand polydactyly and their different treatment approaches. Hand polydactyly is commonly classified as ulnar... (Review)
Review
PURPOSE OF REVIEW
The purpose of this review is to describe various forms of hand polydactyly and their different treatment approaches. Hand polydactyly is commonly classified as ulnar (small finger) or radial (thumb). Polydactyly can be sporadic, genetic, and/or associated with syndromic conditions.
RECENT FINDINGS
Both ulnar and radial polydactyly can be surgically treated to optimize hand aesthetics and function. Timing of surgery is based on multiple factors, most notably including safety of anesthesia and socialization of the affected child. The pediatrician should be aware of potential associated conditions, such as chondroectodermal dysplasia or Ellis-van Creveld syndrome for ulnar polydactyly.
SUMMARY
Polydactyly is a common congenital hand difference and can be broadly be classified by radial or ulnar involvement. Polydactyly warrants hand surgical referral, as surgical treatment is often indicated. Pediatricians should be aware of treatment options, as well as of commonly associated anomalies and syndromes.
Topics: Child; Fingers; Hand Deformities, Congenital; Humans; Polydactyly; Thumb
PubMed: 31851054
DOI: 10.1097/MOP.0000000000000871 -
The Journal of Hand Surgery Oct 2020Macrodactyly is a rare, nonhereditary congenital deformity. Digital enlargement in macrodactyly involves all tissue types and presents alone or as part of a congenital...
PURPOSE
Macrodactyly is a rare, nonhereditary congenital deformity. Digital enlargement in macrodactyly involves all tissue types and presents alone or as part of a congenital deformity syndromes. Macrodactyly treatment largely depends on surgeons' experience and knowledge. Because there is a paucity of large cohort studies of macrodactyly in the literature, our goal was to retrospectively analyze macrodactyly cases in order to define a better system for diagnosis, classification, and prognosis.
METHODS
Medical records of 90 Chinese macrodactyly patients, including demographic characteristics, clinical presentations, anatomical distributions, x-rays, pathological findings, and treatments, were reviewed. Genetic analyses of 12 patients were also reviewed.
RESULTS
Disease incidence was similar across sex and geographical regions. Multiple-digit involvement was 2.6 times more frequent than single-digit involvement. The index finger, middle finger, and thumb were most commonly involved. Two digits were affected more often than 3, with the affected digits adjacent in most cases. The affected digit was in the median nerve innervation distribution in 79% of cases and was accompanied by enlargement and fat infiltration of the median nerve. Seven cases had syndactyly. Ten of the 12 cases subjected to PIK3CA mutation analysis were positive.
CONCLUSIONS
Macrodactyly represents a heterogeneous group of conditions, without significant sex or geographical predilection, which is usually present at birth. A high PIK3CA mutation-positive rate in affected tissues suggests a similar cellular mechanism for overgrowth in patients with various clinical presentations.
TYPE OF STUDY/LEVEL OF EVIDENCE
Prognostic IV.
Topics: Fingers; Humans; Infant, Newborn; Limb Deformities, Congenital; Retrospective Studies; Syndactyly
PubMed: 32299688
DOI: 10.1016/j.jhsa.2020.03.002 -
Clinical Dysmorphology Jul 2022Laurin-Sandrow syndrome also known as tetramelic mirror-image polydactyly is a rare congenital disorder characterized classically by polysyndactyly of the hands, mirror... (Review)
Review
INTRODUCTION
Laurin-Sandrow syndrome also known as tetramelic mirror-image polydactyly is a rare congenital disorder characterized classically by polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella) often associated with ulnar and/or fibular duplication. As a pathologic entity, it is heterogeneous, the patients displaying a variety of symptoms. This review aims to analyze the different aspects of the condition, such as clinical findings and methods of treatment to summarize the principal features of Laurin-Sandrow syndrome.
MATERIALS AND METHODS
The review is based on searches on PubMed, Web of Science and Researchgate of the following terms: "Laurin-Sandrow syndrome", "mirror hands", "mirror feet", "tetramelic mirror-image polydactyly", "fibular dimelia" and "ulnar dimelia". Clinical cases, reviews and original articles were included.
RESULTS
As a consequence of our findings, we suggest a modification of the Al-Qattan classification system for Mirror Hand-Multiple Hand Spectrum.
CONCLUSION
Even though it has an extremely low incidence, a thorough understanding of the syndrome enables the surgeon to choose the appropriate treatment with the ultimate goal to improve the patient's life quality.
Topics: Abnormalities, Multiple; Ectromelia; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Nose; Polydactyly
PubMed: 35256564
DOI: 10.1097/MCD.0000000000000420