Results 21 to 30 of about 128,250 (259)
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
core +3 more sources
Indian Journal of Case Reports, 2020 Ectodermal dysplasia (ED) is a hereditary disorder characterized by abnormal development of two or more embryonic ectodermal structures such as skin, nails, teeth, hair, eyes, and sweat glands.
Abid S Khan +5 more
semanticscholar +1 more source
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
core +2 more sources
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
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
openaire +2 more sources
Prosthodontic Management of a Pediatric Patient with Christ-Siemens-Touraine Syndrome: A Case Report
International Journal of Clinical Pediatric Dentistry, 2019 Ectodermal dysplasias (ED) are a group of rare genetic disorders characterized by congenital defects involving two or more ectodermal structures.
A. Abdulla +6 more
semanticscholar +1 more source
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
openaire +2 more sources
Activity and passivity: class and gender in the case of the artificial hand [PDF]
, 2017 This article analyzes the tension between the active, present body and the absent, passive body in this medical case study, presented by doctor and prosthetist Henry Robert Heather Bigg in his 1885 book Artificial Limbs and the Amputations which Afford ...
Stainthorpe, Clare
core +3 more sources
Trisomy 18 Syndrome with Incomplete Cantrell Syndrome
Pediatrics and Neonatology, 2008 The pentalogy of Cantrell was first described in 1958 by Cantrell and coworkers, who reported five cases in which they described a pentad of findings including a midline supraumbilical thoracoabdominal wall defect, a defect of the lower sternum ...
Yi-Jen Hou +6 more
doaj +1 more source
Annals of Dermatology, 2015 Dear Editor: Ectodermal dysplasias (ED) encompass nearly 200 different genetic conditions identified by the lack, or dysgenesis, of at least two ectodermal derivatives, such as hair, nails, teeth, and sweat glands.
J. Salas-Alanis +9 more
semanticscholar +1 more source