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Anais Brasileiros de Dermatologia 2016CLOVES syndrome is a rare, newly described, and relatively unknown syndrome, related to somatic mutations of the PIK3CA gene. Clinical findings include adipose tissue...
CLOVES syndrome is a rare, newly described, and relatively unknown syndrome, related to somatic mutations of the PIK3CA gene. Clinical findings include adipose tissue overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal deformities. This report deals with a characteristic phenotype case, highlighting peculiar cutaneous and radiological changes.
Topics: Abnormalities, Multiple; Adipose Tissue; Child, Preschool; Humans; Lipoma; Magnetic Resonance Imaging; Male; Musculoskeletal Abnormalities; Nevus; Photography; Vascular Malformations
PubMed: 27438212
DOI: 10.1590/abd1806-4841.20165897 -
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 -
Toxicology and Applied Pharmacology May 2018Human pesticide exposure can occur both occupationally and environmentally during manufacture and after the application of indoor and outdoor pesticides, as well as... (Review)
Review
Human pesticide exposure can occur both occupationally and environmentally during manufacture and after the application of indoor and outdoor pesticides, as well as through consumption via residues in food and water. There is evidence from experimental studies that numerous pesticides, either in isolation or in combination, act as endocrine disruptors, neurodevelopmental toxicants, immunotoxicants, and carcinogens. We reviewed the international literature on this subject for the years between 1990 and 2017. The studies were considered in this review through MEDLINE and WHO resources. Out of the n = 1817 studies identified, n = 94 were reviewed because they fulfilled criteria of validity and addressed associations of interest. Epidemiological studies have provided limited evidence linking pre- and post-natal exposure to pesticides with cancers in childhood, neurological deficits, fetal death, intrauterine growth restriction, preterm birth, and congenital abnormalities (CAs). In this review, the potential association between pesticide exposure and the appearance of some human CAs (including among others musculoskeletal abnormalities; neural tube defects; urogenital and cardiovascular abnormalities) was investigated. A trend towards a positive association between environmental or occupational exposure to some pesticides and some CAs was detected, but this association remains to be substantiated. Main limitations of the review include inadequate exposure assessment and limited sample size. Adequately powered studies with precise exposure assessments such as biomonitoring, are warranted to clarify with certainty the potential association between pesticide exposure and human CAs.
Topics: Abnormalities, Drug-Induced; Animals; Congenital Abnormalities; Environmental Exposure; Humans; Occupational Exposure; Pesticides
PubMed: 29596925
DOI: 10.1016/j.taap.2018.03.025 -
Annals of the New York Academy of... Dec 2017Postaxial limb hypoplasia (PALH) is a group of nonhereditary diseases with congenital lower limb deficiency affecting the fibular ray, including fibular hemimelia,... (Review)
Review
Postaxial limb hypoplasia (PALH) is a group of nonhereditary diseases with congenital lower limb deficiency affecting the fibular ray, including fibular hemimelia, proximal femoral focal deficiency, and tarsal coalition. The etiology and the developmental biology of the anomaly are still not fully understood. Here, we review the previous classification systems, present the clinical features, and discuss the developmental biology of PALH.
Topics: Ectromelia; Fibula; Genetic Predisposition to Disease; Humans; Limb Deformities, Congenital; Musculoskeletal Development; Mutation; Signal Transduction
PubMed: 28990185
DOI: 10.1111/nyas.13440 -
BMJ Case Reports May 2019
Topics: Adult; Foot Deformities, Congenital; Humans; Lipomatosis; Male; Toes
PubMed: 31061199
DOI: 10.1136/bcr-2019-229464 -
Folia Medica Apr 2021Mermaid syndrome or sirenomelia is an extremely rare congenital malformation with an incidence between 1.5 and 4.2 per 1,000,000 pregnancies. Association of mermaid...
Mermaid syndrome or sirenomelia is an extremely rare congenital malformation with an incidence between 1.5 and 4.2 per 1,000,000 pregnancies. Association of mermaid syndrome with VACTERL-H syndrome is extremely rare, with only two cases reported so far in the literature. We present a new case of type I sirenomelia associated with VACTERL-H syndrome and review the relevant literature. A 15-year-old female patient was admitted to the Department of Pathological Pregnancy at St George University Hospital, Plovdiv with progredient abortion during her first pregnancy. She had low socioeconomic status, negative history of concomitant diseases and addictions. The patient avoided prophylactic intake of folic acid during her pregnancy. Prenatal ultrasound found a malformative fetus. Consequently, magnetic resonance imaging was performed which established the presence of hydrocephalus and defects in the lower part of the spine. These pathological findings indicated interruption of pregnancy at 20 weeks of gestation. The fetopathological examination found sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal and ureteric agenesis, bladder agenesis, tracheo-esophageal fistula, agenesis of external genitals, monkey fold of the left palm of the hand, also known as VACTERL-H syndrome.Our case demonstrates that mermaid syndrome and VACTERL-H syndrome represent different manifestations of a single pathological process that results in disorders of the blastogenesis at different stages during embryonic development.
Topics: Adolescent; Anal Canal; Cardiovascular Abnormalities; Digestive System Abnormalities; Ectromelia; Esophagus; Female; Genetic Diseases, X-Linked; Heart Defects, Congenital; Humans; Hydrocephalus; Kidney; Limb Deformities, Congenital; Musculoskeletal Abnormalities; Pregnancy; Spine; Syndrome; Trachea
PubMed: 33932019
DOI: 10.3897/folmed.63.e52900 -
The Canadian Veterinary Journal = La... May 2004Thyroid hyperplasia and musculoskeletal deformity, described in foals in western Canada, has not been recognized as a common cause of neonatal foal mortality in Ontario....
Thyroid hyperplasia and musculoskeletal deformity, described in foals in western Canada, has not been recognized as a common cause of neonatal foal mortality in Ontario. A case is reported from Ontario, with clinical and histopathological findings consistent with the syndrome described in western Canada.
Topics: Animals; Animals, Newborn; Congenital Abnormalities; Fatal Outcome; Female; Horses; Hyperplasia; Musculoskeletal Abnormalities; Musculoskeletal System; Ontario; Syndrome; Thyroid Gland
PubMed: 15206593
DOI: No ID Found -
Clinical Dysmorphology Jul 2022
Topics: Abnormalities, Multiple; Adult; Genetic Diseases, X-Linked; Genomics; Humans; Ichthyosiform Erythroderma, Congenital; Limb Deformities, Congenital; Musculoskeletal Abnormalities
PubMed: 35394469
DOI: 10.1097/MCD.0000000000000422 -
Journal of Medical Case Reports Apr 2024Sprengel's deformity is a congenital abnormality of the shoulder girdle. Because scapular retraction, such as the Green procedure, is usually performed during childhood...
BACKGROUND
Sprengel's deformity is a congenital abnormality of the shoulder girdle. Because scapular retraction, such as the Green procedure, is usually performed during childhood to improve esthetics and shoulder function, Sprengel's deformity is rarely found in older patients.
CASE PRESENTATION
We presented a unique case of a Japanese female cadaver with Sprengel's deformity at the age of 80 years. Anatomical dissection and radiological imaging revealed musculoskeletal anomalies associated with Sprengel's deformity, including Klippel-Feil syndrome, presence of an omovertebral bone, and absence of the trapezius muscle. In addition, bilateral cervical ribs were in contact with the brachial plexus. These anomalies may lead to numbness, pain, and limited range of motion of the neck and upper girdle with aging.
CONCLUSIONS
Because most adult patients with Sprengel's deformity experience neck pain and limited movement of the shoulder, the presented case is a rare case of neglected Sprengel's deformity in an 80-year-old cadaver.
Topics: Humans; Female; Aged, 80 and over; Cadaver; Scapula; Klippel-Feil Syndrome; Congenital Abnormalities; Brachial Plexus; Shoulder Joint
PubMed: 38678290
DOI: 10.1186/s13256-024-04528-w -
Birth Defects Research Nov 2019While there is strong evidence that genetic risk factors play an important role in the etiologies of structural birth defects, compared to other diseases, there have... (Review)
Review
BACKGROUND
While there is strong evidence that genetic risk factors play an important role in the etiologies of structural birth defects, compared to other diseases, there have been relatively few genome-wide association studies (GWAS) of these conditions. We reviewed the current landscape of GWAS conducted for birth defects, noting novel insights, and future directions.
METHODS
This article reviews the literature with regard to GWAS of structural birth defects. Key defects included in this review include oral clefts, congenital heart defects (CHDs), biliary atresia, pyloric stenosis, hypospadias, craniosynostosis, and clubfoot. Additionally, other issues related to GWAS are considered, including the assessment of polygenic risk scores and issues related to genetic ancestry, as well as utilizing genome-wide single nucleotide polymorphism array data to evaluate gene-environment interactions and Mendelian randomization.
RESULTS
For some birth defects, including oral clefts and CHDs, several novel susceptibility loci have been identified and replicated through GWAS, including 8q24 for oral clefts, DGKK for hypospadias, and 4p16 for CHDs. Relatively common birth defects for which there are currently no published GWAS include neural tube defects, anotia/microtia, anophthalmia/microphthalmia, gastroschisis, and omphalocele.
CONCLUSIONS
Overall, GWAS have been successful in identifying several novel susceptibility genes and genomic regions for structural birth defects. These findings have provided new insights into the etiologies of these phenotypes. However, GWAS have been underutilized for understanding the genetic etiologies of several birth defects.
Topics: Cardiovascular Abnormalities; Congenital Abnormalities; Eye Abnormalities; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Musculoskeletal Abnormalities; Nervous System Malformations; Otorhinolaryngologic Diseases
PubMed: 31654503
DOI: 10.1002/bdr2.1606