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Survey of Ophthalmology 1990Down syndrome is the most common chromosome abnormality of man. The isolated occurrence of any one of the most of the protean systemic and ocular features of Down... (Review)
Review
Down syndrome is the most common chromosome abnormality of man. The isolated occurrence of any one of the most of the protean systemic and ocular features of Down syndrome is not specific to the disorder. The associated occurrence of several of these features, however, has distinguished affected individuals as having a distinct entity for nearly 125 years. Recent advances in prenatal diagnosis have allowed the earlier detection, in utero, of chromosomal abnormalities. Although predisposing genetic and environmental influences remain for the most part unknown, advances in molecular biology are leading to a greater understanding of other common disorders that occur with an increased incidence in individuals with Down syndrome; these include Alzheimer's disease, acute childhood leukemia, congenital heart malformations, and immunologic abnormalities. Associated ocular disorders can significantly affect the quality of life of individuals with Down syndrome. As more children with Down syndrome live into adulthood, the ophthalmologist will play an increasing role in allowing them to lead productive and meaningful lives.
Topics: Congenital Abnormalities; Down Syndrome; Eye Diseases; Humans; Phenotype; Prenatal Diagnosis
PubMed: 2139246
DOI: 10.1016/0039-6257(90)90116-d -
Obstetrical & Gynecological Survey Mar 1995Normal fetal growth and development during pregnancy is highly dependent upon adequate fetal movement. Limitation of movement, regardless of the underlying cause, can... (Review)
Review
Normal fetal growth and development during pregnancy is highly dependent upon adequate fetal movement. Limitation of movement, regardless of the underlying cause, can result in a particular pattern of abnormal fetal morphogenesis. This phenotype is termed the fetal akinesia deformation sequence (FADS). The etiology of fetal akinesia may be generally classified into one of five categories: neuropathy, myopathy, restrictive dermopathy, teratogen exposure, or restricted movement due to intrauterine constraint. In this article, the differential diagnosis of fetal akinesia is systematically reviewed and information regarding prenatal diagnosis, prognosis, perinatal management, and recurrence risks are discussed.
Topics: Congenital Abnormalities; Diagnosis, Differential; Fetal Movement; Humans; Prognosis
PubMed: 7739837
DOI: 10.1097/00006254-199503000-00028 -
The Journal of Maternal-fetal &... May 2018Congenital portosystemic shunts (CPSS) are rare, congenital malformations that are increasingly often discovered during the fetal period, and for which, the... (Review)
Review
AIM
Congenital portosystemic shunts (CPSS) are rare, congenital malformations that are increasingly often discovered during the fetal period, and for which, the manifestations and evolution are poorly understood. The objective of this review is to describe the phenotype and evolution of forms diagnosed in the antenatal period.
MATERIALS AND METHODS
We performed a systematic review of the literature cited in Pubmed between 1982 and 2016 for CPSS cases diagnosed during the fetal period.
RESULTS
We identified 123 cases. The median age at diagnosis was 25 GA (14-38 weeks GA). Eighty patients had 128 associated congenital anomalies. The congenital abnormalities most frequently associated with antenatal diagnosis of CPSS were congenital cardiac disease (30 cases), intrauterine growth restriction (21 cases), vascular anomalies (14 cases), and trisomy 21 (7 cases). Seventy-five complications were reported in the literature. The most frequent were antenatal hemodynamic abnormalities (27 cases), neonatal cholestasis (11 cases), and hyperammonemia (10 cases). Twenty-nine patients had no complications. The choice of treatment was conservative in 29/56 cases, interventional radiology in 15 cases and surgery in 15 cases (three of the latter after failure of embolization).
CONCLUSION
From this review, we propose an algorithm for the perinatal management of this congenital abnormality.
Topics: Algorithms; Congenital Abnormalities; Female; Fetal Growth Retardation; Gestational Age; Humans; Infant; Infant, Newborn; Portal Vein; Pregnancy; Ultrasonography, Prenatal; Vascular Malformations
PubMed: 28372492
DOI: 10.1080/14767058.2017.1315093 -
The Medical Journal of Australia Jan 1971
Topics: Abdominal Muscles; Congenital Abnormalities; Diagnosis, Differential
PubMed: 4250716
DOI: 10.5694/j.1326-5377.1971.tb87480.x -
Lancet (London, England) Dec 1987
Review
Topics: Congenital Abnormalities; Ethics, Medical; Female; Fetal Diseases; Genetic Diseases, Inborn; Genetic Testing; Humans; Information Dissemination; Pregnancy; Pregnant Women; Prenatal Diagnosis; Risk Assessment; United Kingdom
PubMed: 2891001
DOI: No ID Found -
Journal of Pediatric Surgery Aug 2014Accessory hemi diaphragm (AHD) is an uncommon condition. Its clinical features, diagnosis and management have not been clearly defined. (Review)
Review
BACKGROUND/PURPOSE
Accessory hemi diaphragm (AHD) is an uncommon condition. Its clinical features, diagnosis and management have not been clearly defined.
METHODS
We reviewed the world literature and added a case of our own.
RESULTS
There are 40 proven cases in the literature. The lesion occurs almost exclusively in the right hemithorax. Twenty seven cases presented with cardiovascular and/or respiratory symptoms while 3 had symptoms pertaining to other systems. In the remaining 10 patients the diagnosis was either made accidentally or information pertaining to their presentation is missing. Abnormalities of pulmonary and systemic blood vessels often accompany the abnormality. The diagnosis is usually suspected because of an abnormal chest radiograph and confirmed by a variety of tests.
CONCLUSIONS
If the AHD prevents proper aeration of the lung it should be excised. If vascular abnormalities coexist they should be treated along with the AHD. Asymptomatic patients may be observed after confirming the diagnosis.
Topics: Congenital Abnormalities; Diagnosis, Differential; Diaphragm; Humans; Infant, Newborn; Magnetic Resonance Imaging; Male; Thoracic Surgical Procedures; Tomography, X-Ray Computed
PubMed: 25092100
DOI: 10.1016/j.jpedsurg.2014.03.005 -
Journal of Dairy Science Apr 1971
Topics: Animals; Cattle; Cattle Diseases; Congenital Abnormalities; Forelimb; Hindlimb; Limb Deformities, Congenital
PubMed: 5106185
DOI: 10.3168/jds.S0022-0302(71)85884-8 -
RoFo : Fortschritte Auf Dem Gebiete Der... Feb 2007Ultrasonography is the method of choice for prenatal malformation screening, but it does not always provide sufficient information for correct diagnosis or adequate... (Comparative Study)
Comparative Study Review
Ultrasonography is the method of choice for prenatal malformation screening, but it does not always provide sufficient information for correct diagnosis or adequate abnormality evaluation. Fetal MRI is increasingly being used to complete sonographic findings. It was initially used for evaluation of cerebral abnormalities but is increasingly being applied to other fetal areas. In vivo investigation of fetal brain maturation has been enhanced by MRI. An adequate analysis of fetal chest and abdomen can be achieved with fast T2-, T1-weighted and diffusion-weighted imaging (DWI). The advantages include the great field of view and the excellent soft tissue contrast. This allows correct diagnosis of congenital diaphragmatic hernia and evaluation of the consequences on pulmonary growth. Other pulmonary malformations, such as cystic adenomatoid malformation, sequestration and bronchogenic cysts, can also be easily identified. Renal position can be quickly determined using DWI sequences and renal agenesia can be easily diagnosed with only one sequence. Prenatal MRI is virtually as effective as postnatal examination, dispenses with transport of a potentially very ill newborn, and provides logistic advantages. Therefore, prenatal MRI is useful for adequate postnatal treatment of newborns with malformations.
Topics: Abdomen; Bronchogenic Cyst; Bronchopulmonary Sequestration; Congenital Abnormalities; Female; Fetal Diseases; Fetus; Gestational Age; Hernia, Diaphragmatic; Hernias, Diaphragmatic, Congenital; Humans; Magnetic Resonance Imaging; Male; Pregnancy; Prenatal Diagnosis; Thorax; Ultrasonography, Prenatal
PubMed: 17310442
DOI: 10.1055/s-2006-927307 -
Tidsskrift For Den Norske Laegeforening... Jul 1962
Topics: Congenital Abnormalities; Hypnotics and Sedatives; Iatrogenic Disease
PubMed: 14461065
DOI: No ID Found -
Lancet (London, England) Mar 1985
Topics: Congenital Abnormalities; Female; Humans; Pregnancy; Prenatal Diagnosis; Risk Assessment; Ultrasonography
PubMed: 2857952
DOI: No ID Found