Results 11 to 20 of about 2,385 (150)
Archives of Trauma Research, 2020 We present a rare case of pathological shaft of femur fracture in an 18-year-old male, with an underlying arteriovenous malformation (AVM). Magnetic resonance imaging showed extensive intraosseous femoral involvement of the vascular malformation, and the canal was deemed to be wide enough for a nail based on the radiograph templates and computed ...
Deepak Kumar +3 more
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Indian Journal of Plastic Surgery, 2010 Ectodermal dysplasia is a rare group of inherited disorders characterized by aplasia or dysplasia of tissues of ectodermal origin, such as hair, nails, teeth and skin. Dental manifestations include hypodontia, complete anodontia or malformed teeth.
Deshpande Sanjeev, Kumar Vikas
doaj +3 more sources
Cytogenetic and Array-CGH Characterization of a Complex de novo Rearrangement Involving Duplication and Deletion of 9p and Clinical Findings in a 4-Month-Old Female [PDF]
, 2014 Approximately 15 patients with partial trisomy 9p involving de novo duplications have been previously described. Here, we present clinical, cytogenetic, FISH and aCGH findings in a patient with a de novo complex rearrangement in the short arm of ...
Donovan, D. J. +7 more
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Síndrome das unhas frágeis Brittle nail syndrome
Anais Brasileiros de Dermatologia, 2007 A síndrome das unhas frágeis é queixa comum, caracterizada por aumento da fragilidade das lâminas ungueais. Afeta quase 20% da população geral, sendo mais comum em mulheres. Clinicamente se manifesta com onicosquizia e onicorrexe - distúrbios nos fatores
Izelda Maria Carvalho Costa +2 more
doaj +1 more source
Anais Brasileiros de Dermatologia, 2008 O pinçamento do leito ungueal gerado pela hipercurvatura transversa da unha é chamado de unha em pinça e pode provocar dor e constituir problema estético.
Glaysson Tassara +3 more
doaj +1 more source
Prosthodontic management of hypohidrotic ectodermal dysplasia: a case report [PDF]
, 2015 Introduction: Ectodermal dysplasia (ED) is a hereditary disorder associated with developmental disorders of two or more structures of ectodermal embryonic origin.
Bajraktarova, B. +6 more
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Balkan Journal of Medical Genetics, 2010 XYY Karyotype in a Mentally Retarded Man with Prognathism and Malformation of His Hands and Toe NailsWe report on a 25-year-old man who was referred for evaluation of possible Fragile X syndrome on the basis of mild mental retardation and malformation of his hands and toe nails.
Mahjoubi F, Akbary M, Shafegatee Y
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Orthopaedics & Traumatology: Surgery & Research, 2013 Nail-patella syndrome (NPS) or hereditary onycho-osteodysplasia is a relatively rare autosomal dominant disorder with the classic tetrad of fingernail abnormalities, hypoplastic patellae, radial head dislocation and iliac horns. The anatomic abnormalities in NPS often lead to subluxation or dislocation of the patellaeca causing knee instability and ...
Lippacher, S. +3 more
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A 13-year-old caucasian boy with cleidocranial dysplasia: a case report [PDF]
, 2013 BACKGROUND: Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant skeletal disorder. The disorder is caused by heterozygosity of mutations in human RUNX2, which is present on the short arm of chromosome 6p21.
Ioulia Ioannidou, Olga-Elpis Kolokitha
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Duplication 9p and their implication to phenotype [PDF]
, 2014 Background: Trisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangements resulting in complete 9p duplication, three of them ...
Dantas, Anelisa Gollo +8 more
core +2 more sources