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Orphanet Journal of Rare Diseases Oct 2009Exstrophy-epispadias complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) to classical bladder exstrophy (CEB) and... (Review)
Review
Exstrophy-epispadias complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) to classical bladder exstrophy (CEB) and exstrophy of the cloaca (EC). Depending on severity, EEC may involve the urinary system, musculoskeletal system, pelvis, pelvic floor, abdominal wall, genitalia, and sometimes the spine and anus. Prevalence at birth for the whole spectrum is reported at 1/10,000, ranging from 1/30,000 for CEB to 1/200,000 for EC, with an overall greater proportion of affected males. EEC is characterized by a visible defect of the lower abdominal wall, either with an evaginated bladder plate (CEB), or with an open urethral plate in males or a cleft in females (E). In CE, two exstrophied hemibladders, as well as omphalocele, an imperforate anus and spinal defects, can be seen after birth. EEC results from mechanical disruption or enlargement of the cloacal membrane; the timing of the rupture determines the severity of the malformation. The underlying cause remains unknown: both genetic and environmental factors are likely to play a role in the etiology of EEC. Diagnosis at birth is made on the basis of the clinical presentation but EEC may be detected prenatally by ultrasound from repeated non-visualization of a normally filled fetal bladder. Counseling should be provided to parents but, due to a favorable outcome, termination of the pregnancy is no longer recommended. Management is primarily surgical, with the main aims of obtaining secure abdominal wall closure, achieving urinary continence with preservation of renal function, and, finally, adequate cosmetic and functional genital reconstruction. Several methods for bladder reconstruction with creation of an outlet resistance during the newborn period are favored worldwide. Removal of the bladder template with complete urinary diversion to a rectal reservoir can be an alternative. After reconstructive surgery of the bladder, continence rates of about 80% are expected during childhood. Additional surgery might be needed to optimize bladder storage and emptying function. In cases of final reconstruction failure, urinary diversion should be undertaken. In puberty, genital and reproductive function are important issues. Psychosocial and psychosexual outcome depend on long-term multidisciplinary care to facilitate an adequate quality of life.
Topics: Abnormalities, Multiple; Bladder Exstrophy; Cloaca; Counseling; Diagnosis, Differential; Epispadias; Female; Humans; Male; Osteotomy; Prenatal Diagnosis; Prognosis
PubMed: 19878548
DOI: 10.1186/1750-1172-4-23 -
Seminars in Pediatric Surgery Oct 2020Overgrowth syndromes represent a diverse group of disorders with overlapping features. Interdisciplinary management by a team of experts in vascular anomalies is crucial... (Review)
Review
Overgrowth syndromes represent a diverse group of disorders with overlapping features. Interdisciplinary management by a team of experts in vascular anomalies is crucial for establishing the correct diagnosis and optimizing outcomes for these patients. Unique management considerations include increased risk for thrombosis and in some cases, cancer. In recent years, research has demonstrated that these disorders are primarily caused by somatic mutations in growth pathways, particularly the PI3K-mTOR pathway. This improved understanding had led to promising new therapies for this group of patients.
Topics: Child; Hamartoma Syndrome, Multiple; Humans; Klippel-Trenaunay-Weber Syndrome; Lipoma; Musculoskeletal Abnormalities; Nevus; Proteus Syndrome; Sturge-Weber Syndrome; Vascular Malformations
PubMed: 33069285
DOI: 10.1016/j.sempedsurg.2020.150974 -
Orphanet Journal of Rare Diseases Mar 2022Marfan syndrome is associated with abnormalities in the musculoskeletal system including scoliosis, pectus deformities, protrusio acetabuli, and foot deformities. Over a...
BACKGROUND
Marfan syndrome is associated with abnormalities in the musculoskeletal system including scoliosis, pectus deformities, protrusio acetabuli, and foot deformities. Over a life span, many patients with Marfan syndrome will need treatment; however, the musculoskeletal morbidity over a life span is not well described. The aim of the present study was to assess the overall burden of musculoskeletal disease in patients with Marfan syndrome.
MATERIALS AND METHODS
A registry-based, nationwide epidemiological study of patients with a Ghent II verified Marfan syndrome diagnosis from 1977 to 2014. Each patient was matched on age, and sex with up to 100 controls from the background population.
RESULTS
We identified 407 patients with Marfan syndrome and 40,700 controls and compared their musculoskeletal diagnoses and surgical treatments using Cox proportional hazards ratio (HR). The risk of a registration of a musculoskeletal diagnosis in patients with Marfan syndrome was significantly increased compared to controls (HR: 1.94 (1.69-2.24). One out of six with Marfan syndrome was registered with scoliosis (HR: 36.7 (27.5-48.9). Scoliosis was more common in women with Marfan syndrome compared to men (HR: 4.30 (1.73-1.08)). One out of 11 were registered with a pectus deformity HR: 40.8 (28.1-59.3), and one out of six with a deformity of the foot. Primarily pes planus (HR: 26.0 (15.2-44.3). The proportion of patients with Marfan syndrome (94/407) that underwent musculoskeletal surgery was also significantly higher (HR: 1.76 (1.43-2.16)). The major areas of surgery were the spine, pectups correction, and surgery of the foot/ankle. Ten patients with Marfan syndrome had elective orthopedic surgery without being recognized and diagnosed with Marfan syndrome until later in life. None of these had scoliosis, pectus deformity or a foot deformity. Among patients with an aortic dissection, the age at dissection was 34.3 years in those with at least one major musculoskeletal abnormality. In patients without a major abnormality the age at dissection was 45.1 years (p < 0.01).
CONCLUSIONS
The extent of musculoskeletal disease is quite significant in Marfan syndrome, and many will need corrective surgery during their life span. Surgeons should be aware of undiagnosed patients with Marfan syndrome when treating patients with a Marfan syndrome like-phenotype.
Topics: Female; Humans; Marfan Syndrome; Proportional Hazards Models; Registries; Scoliosis
PubMed: 35248143
DOI: 10.1186/s13023-022-02272-2 -
Journal of Pediatric Rehabilitation... 2020Orthopedic or musculoskeletal problems are common in individuals with spina bifida. They can affect function and mobility and, in the case of spinal deformity, affect... (Review)
Review
Orthopedic or musculoskeletal problems are common in individuals with spina bifida. They can affect function and mobility and, in the case of spinal deformity, affect pulmonary function. We discuss the current treatment guidelines developed through collaboration with the Spina Bifida Association and the Orthopedics and Mobility working group using a specific methodology previously reported [1,2]. General considerations are discussed followed by evaluation and treatment guidelines for specific age ranges. References are provided where applicable, but where data is lacking treatment guidelines fall under the umbrella of clinical consensus. This leaves "research gaps" where areas of possible future study could be considered.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Musculoskeletal Diseases; Orthopedics; Practice Guidelines as Topic; Spinal Dysraphism; Young Adult
PubMed: 33252095
DOI: 10.3233/PRM-200750 -
Disability and Health Journal Apr 2018In the late 1950s and early 1960s the drug Thalidomide was given to thousands of pregnant women across the world to relieve morning sickness. The drug caused severe... (Review)
Review
BACKGROUND
In the late 1950s and early 1960s the drug Thalidomide was given to thousands of pregnant women across the world to relieve morning sickness. The drug caused severe birth defects. Much has been written about the drug, its teratogenic effects, and the nature of the damage it caused. There is however, little literature exploring ageing with Thalidomide damage.
OBJECTIVES
The aim of the review was to bring together, for the first time, the evidence about the Thalidomide-related health problems Thalidomide survivors are experiencing, as they grow older.
METHODS
A systematised review of published and grey literature, in which grounded theory provided a heuristic for the evidence synthesis.
RESULTS
Twenty-five relevant papers were found. They included biomedical papers focusing on specific health problems, alongside surveys and mixed method accounts exploring the health of Thalidomide survivors. Most studies had physical health as their primary focus.
CONCLUSIONS
The two most frequently reported groups of health problems were musculoskeletal and mental health conditions. There was little discussion about the social consequences of secondary damage being layered onto lifelong impairments or of the implications of co-morbidities. Future research needs a stronger connection to more social models of disability and critical disability studies.
Topics: Aging; Comorbidity; Congenital Abnormalities; Disabled Persons; Female; Health Status; Humans; Mental Disorders; Musculoskeletal Diseases; Pregnancy; Survivors; Teratogens; Thalidomide
PubMed: 29109034
DOI: 10.1016/j.dhjo.2017.09.004 -
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 -
Clinical Orthopaedics and Related... May 2009Although clubfoot is one of the most common congenital abnormalities affecting the lower limb, it remains a challenge not only to understand its genetic origins but also... (Review)
Review
UNLABELLED
Although clubfoot is one of the most common congenital abnormalities affecting the lower limb, it remains a challenge not only to understand its genetic origins but also to provide effective long-term treatment. This review provides an update on the etiology of clubfoot as well as current treatment strategies. Understanding the exact genetic etiology of clubfoot may eventually be helpful in determining both prognosis and the selection of appropriate treatment methods in individual patients. The primary treatment goal is to provide long-term correction with a foot that is fully functional and pain-free. To achieve this, a combination of approaches that applies the strengths of several methods (Ponseti method and French method) may be needed. Avoidance of extensive soft-tissue release operations in the primary treatment should be a priority, and the use of surgery for clubfoot correction should be limited to an "a la carte" mode and only after failed conservative methods.
LEVEL OF EVIDENCE
Level V, therapeutic study. See Guidelines for Authors for a complete description of levels of evidence.
Topics: Casts, Surgical; Clubfoot; Combined Modality Therapy; Genetic Predisposition to Disease; Humans; Minimally Invasive Surgical Procedures; Musculoskeletal Manipulations; Orthopedic Procedures; Recurrence; Risk Factors; Tendons; Treatment Outcome
PubMed: 19224303
DOI: 10.1007/s11999-009-0734-9 -
BMC Pediatrics Jun 2023Children with spina bifida (SB) may have congenital or acquired foot deformities due to neurological defects in the spinal cord. As the musculoskeletal system keeps...
BACKGROUND
Children with spina bifida (SB) may have congenital or acquired foot deformities due to neurological defects in the spinal cord. As the musculoskeletal system keeps growing, foot deformities can develop or become aggravated. Thus, healthcare providers should provide constant monitoring and proper orthopedic management. Since foot deformities can affect not only the gait but also the daily life of children with SB, it is necessary to investigate the impact of foot deformities on everyday life. The purpose of this study was to examine the relationship between foot deformity and health-related quality of life (HRQoL) among independently ambulating children with SB.
METHODS
This cross-sectional study examined the associations between foot deformity and HRQoL using two patient-reported outcome measures (Oxford Ankle Foot Questionnaire, Pediatric Outcomes Data Collection Instrument) in 93 children with SB aged 7-18 years between January 2020 and July 2021.
RESULTS
Children with foot deformity (n = 54) reported lower scores in all subscales (physical, school and play, emotional, and footwear) of the Oxford Ankle Foot Questionnaire for children than those without foot deformity (n = 39; p < 0.001). Additionally, in terms of the Pediatric Outcomes Data Collection Instrument, children with foot deformity also reported poorer scores in four subscales (transfer and basic mobility, sports and physical functioning, comfort and pain, happiness with physical functioning; p < 0.001) than those without foot deformity, whereas upper extremity functioning was not significantly affected. Children with foot deformities, particularly those with bilateral foot deformities, equinus deformities, or mixed deformities, which are different types of right and left foot deformities, have a lower perceived HRQoL (p < 0.05).
CONCLUSIONS
Among independently ambulating children with SB, those with foot deformities showed lower HRQoL. Moreover, children with foot deformities tend to have other clinical problems, including bladder and bowel dysfunction. Therefore, orthopedic management should consider the multifaceted factors that affect children's daily life and HRQoL.
Topics: Child; Humans; Quality of Life; Cross-Sectional Studies; Foot Deformities; Surveys and Questionnaires; Spinal Dysraphism
PubMed: 37277711
DOI: 10.1186/s12887-023-04100-3 -
British Medical Journal Oct 1959
Topics: Craniosynostoses; Humans; Musculoskeletal Abnormalities; Skull
PubMed: 13851199
DOI: 10.1136/bmj.2.5155.792 -
European Journal of Medical Genetics Feb 2024Infants with anophthalmia and microphthalmia (an/microphthalmia) have often other associated congenital anomalies. The reported frequency and the types of these...
Infants with anophthalmia and microphthalmia (an/microphthalmia) have often other associated congenital anomalies. The reported frequency and the types of these associated anomalies vary between different studies. The purpose of this investigation was to assess the frequency and the types of associated anomalies among cases with an/microphthalmia in a geographically well defined population of northeastern France of 387,067 consecutive pregnancies from 1979 to 2007. Of the 98 infants with an/microphthalmia born during this period (prevalence at birth of 2.53 per 10,000), 88.8 % had associated anomalies. Cases with associated anomalies were divided into recognizable conditions (25 (25.5%) cases with chromosomal and 17 (17.3%) cases with non chromosomal conditions), and non recognizable conditions (45-45.9%- cases with multiple congenital anomalies -MCA). Trisomy 13 and trisomy 18 were the most frequent chromosomal abnormalities. Amniotic bands sequence, oculo-auriculo-vertebral spectrum, CHARGE syndrome and VACTERL association were most often present in recognizable non chromosomal conditions. Anomalies in the musculoskeletal, cardiovascular and central nervous systems were the most common other anomalies in cases with MCA and non recognizable conditions. However, given the limitation of the limited numbers of cases there should be urging caution in interpreting these results. In conclusion the frequency of associated anomalies in infants with anophthalmia and microphthalmia emphasizes the need for a thorough investigation of these cases. Routine screening for other anomalies especially musculoskeletal, cardiac and central nervous systems anomalies may need to be considered in infants with anophthalmia and microphthalmia, and referral of these cases for genetic counselling seems warranty.
Topics: Infant; Infant, Newborn; Pregnancy; Female; Humans; Anophthalmos; Microphthalmos; Heart Defects, Congenital; Limb Deformities, Congenital; CHARGE Syndrome; Prevalence
PubMed: 38110175
DOI: 10.1016/j.ejmg.2023.104892