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Capillary Malformation-Arteriovenous Malformation Syndrome [PDF]
Cureus, 2021 Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal dominant inherited rare type of vascular malformation encountered in a neonate and first described in 2003. It has been reported in association with heterozygous mutations in the RASA1 gene, which encodes the protein RASp21.
Alluhaibi, Razan +2 more
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Congenital heart defects: A morphological approach
Cardiology Plus, 2021 Congenitally malformed hearts are often perceived as too complex for the general practitioner. By using a descriptive method, each malformed heart can be analyzed systematically without reference to presumptions of what went wrong during cardiac ...
Siew Yen Ho
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A novel cochlear measurement that predicts inner-ear malformation
Scientific Reports, 2021 The A-value used in cochlear duct length (CDL) estimation does not take malformed cochleae into consideration. The objective was to determine the A-value reported in the literature, to assess the accuracy of the A-value measurement and to evaluate a ...
Tawfiq Khurayzi +5 more
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Orphanet Journal of Rare Diseases, 2006 Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex ...
Peña Alberto, Levitt Marc A
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Clinics in Colon and Rectal Surgery, 2018 AbstractAnorectal malformation are common congenital problems occurring in 1 in 5,000 births and have a spectrum of anatomical presentations, requiring individualized treatments for the newborn, sophisticated approaches to the definitive reconstruction, and management of long-term treatments and outcomes.
Richard J, Wood, Marc A, Levitt
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Anais Brasileiros de Dermatologia, 2015 The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis.
Nilton Di Chiacchio +4 more
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Whole-Genome Methylation Study of Congenital Lung Malformations in Children
Frontiers in Oncology, 2021 Background and ObjectivesThe treatment of asymptomatic patients with congenital pulmonary malformations (CPMs) remains controversial, partially because the relationship between congenital lung malformations and malignancy is still undefined.
Sara Patrizi +3 more
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Potential Implications of Slim Modiolar Electrodes for Severely Malformed Cochleae: A Comparison With the Straight Array With Circumferential Electrodes [PDF]
Clinical and Experimental Otorhinolaryngology, 2021 Objectives Malformations of the inner ear account for approximately 20% of cases of congenital deafness. In current practice, straight arrays with circumferential electrodes (i.e., full-banded electrodes) are widely used in severely malformed cochleae ...
Sang-Yeon Lee, Byung Yoon Choi
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Malformed trilobites from the Cambrian, Ordovician, and Silurian of Australia [PDF]
PeerJ, 2023 Biomineralised remains of trilobites provide important insight into the evolutionary history of a diverse, extinct group of arthropods. Their exoskeletons are also ideal for recording malformations, including evidence of post-injury repair.
Russell D. C. Bicknell +2 more
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Malformations in Late Devonian brachiopods from the western Junggar, NW China and their potential causes [PDF]
PeerJ, 2022 Although malformations are found in both extant organisms and the fossil record, they are more rarely reported in the fossil record than in living organisms, and the environmental factors causing the malformations are much more difficult to identify for ...
Ruiwen Zong, Yiming Gong
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