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Congenital chromosome anomalies
Bulletin der Schweizerischen Akademie der Medizinischen Wissenschaften, 1978The introduction of chromosome banding techniques has led to the detection of a greatly increased number of congenital chromosome anomalies, especially those involving duplication and/or deficiency of short segments of chromosomes. Of most widespread use are the general banding techniques: Q-, G- and R-banding.
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Congenital Limb Overgrowth Syndromes Associated with Vascular Anomalies.
Radiographics, 2019Congenital limb length discrepancy disorders are frequently associated with a variety of vascular anomalies and have unique genetic and phenotypic features. Many of these syndromes have been linked to sporadic somatic mosaicism involving mutations of the
Frederic J. Bertino +6 more
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Congenital craniofacial anomalies
Current Opinion in Ophthalmology, 2010Congenital abnormalities of the cranium and face present complex diagnostic and therapeutic challenges to the ophthalmologist.Patients with craniofacial anomalies are best treated by a multidisciplinary team that includes specialists from plastic surgery, neurosurgery, ophthalmology, otolaryngology, oromaxillofacial surgery, orthodontics, anesthesia ...
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Plastic and Reconstructive Surgery, 2018
Background: Microtia is a congenital anomaly of the external ear that can appear in isolation or in association with other congenital anomalies. In this study, the authors identify the prevalence and phenotypes of associated congenital malformations in ...
Ye Zhang +9 more
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Background: Microtia is a congenital anomaly of the external ear that can appear in isolation or in association with other congenital anomalies. In this study, the authors identify the prevalence and phenotypes of associated congenital malformations in ...
Ye Zhang +9 more
semanticscholar +1 more source
JAMA: The Journal of the American Medical Association, 1983
The Western world has witnessed waning infant mortality rates from infectious diseases these past few decades. At the same time has come the increasing recognition of the importance of congenital anomalies as a major cause of perinatal, neonatal, and infant deaths. Today, 2% to 3% of all births are associated with a major congenital anomaly.
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The Western world has witnessed waning infant mortality rates from infectious diseases these past few decades. At the same time has come the increasing recognition of the importance of congenital anomalies as a major cause of perinatal, neonatal, and infant deaths. Today, 2% to 3% of all births are associated with a major congenital anomaly.
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Pediatric Clinics of North America, 2003
Any part of the eye and its surrounding tissues may be affected by congenital malformation. Anomalies may occur in isolation, in combination, or as part of a systemic malformation syndrome. Early identification is essential to remove potential obstructions to visual development and to identify potential underlying multisystem disease.
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Any part of the eye and its surrounding tissues may be affected by congenital malformation. Anomalies may occur in isolation, in combination, or as part of a systemic malformation syndrome. Early identification is essential to remove potential obstructions to visual development and to identify potential underlying multisystem disease.
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Congenital optic disk anomalies
Survey of Ophthalmology, 1994Over the past decade, a wealth of information has accumulated pertaining to the diagnosis and management of patients with congenital optic disk anomalies. As new examples of each entity have been detailed, the diagnostic criteria for each anomaly have become more clearly defined.
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