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Paediatric and adolescent foot disorders
Published in Maneesh Bhatia, Essentials of Foot and Ankle Surgery, 2021
Congenital vertical talus (CVT), also known as congenital convex pes valgus, is a foot deformity present at birth and characterised by a severe rigid “rocker-bottom” flatfoot (Figure 5.5). It is an uncommon condition of the foot with an estimated incidence of 1 in 10,000 live births and equal prevalence amongst males and females. Half of the children with the pathology have bilateral involvement (17–20). The exact aetiology remains largely unknown; however, 50% of cases are associated with neuromuscular disorders like neural tube defects, cerebral palsy and arthrogryposis, or genetic syndromes such as De Barsy syndrome, Marfan's syndrome, Prune belly syndrome, Costello syndrome and Rasmussen syndrome. Hence, a comprehensive clinical assessment looking for any syndromic features and full evaluation of the neuroaxis is mandatory for all patients presenting with CVT (17, 21–27).
Premature Aging
Published in Nate F. Cardarelli, The Thymus in Health and Senescence, 2019
In 1968 DeBarsy et al. described a new aging syndrome from an examination of a male patient with dwarfism, characteristic facies, athetoid movements (hypermobility), oligophrenia, and degeneration of the elastic tissue of the skin.185 Kunze provides a more detailed description of what we now term the De Barsy syndrome.186 Patients have severe mental retardation, muscular hypotonia, large prominent ears (like leprechaunism), cutis laxa, hyperpigmentation of an atrophic dermis, dwarfing, and cataracts as well as the characteristics noted by DeBarsy. Kunze found growth hormone and insulin levels to be normal.186
Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders
Published in Expert Review of Clinical Pharmacology, 2018
Loeys-Dietz syndromes are a group of phenotypes which share dilatation of the thoracic aorta, slender habitus and JH with MFS. Loeys-Dietz syndromes are autosomal dominant conditions due to mutations in five different components of the TGFβ pathway, including TGFBR1, TGFBR2, SMAD2, SMAD3, TGFB2, and TGFB3. Besides the different molecular bases, Loeys-Dietz syndromes (LDS) can be separated from MFS by additional features, comprising facial dysmorphism, cleft uvula, skin fragility, easy bruising, and kinking/coiling of middle arteries, that are quite rare or absent in the latter [18]. There are additional rarer hereditary soft connective tissue disorders usually presenting JH. Major examples include hereditary cutis laxae, such as De Barsy syndrome, arterial tortuosity syndrome and lateral meningocele syndrome.
Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis
Published in Ultrastructural Pathology, 2018
Rosalyn Jewell, Paul Brewer, Sophie Stenton, Ian R Berry, Sue Chatfield, James A Fernandes, Cesar Peres, Bart E Wagner, Christopher Bennett
There are a number of clinical differences between GO, cutis laxa, WSS, and De Barsy syndrome including differences in skin consistency, the location of skin changes, facial features, and the presence of additional systemic features, such as ectodermal features with WSS.1,11,16,17 In infancy, these differences can be subtle and so confirming the diagnosis clinically can be challenging and until relatively recently has been assisted only by skin histological examination.