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The limbs and soft tissues
Published in Spencer W. Beasley, John Hutson, Mark Stringer, Sebastian K. King, Warwick J. Teague, Paediatric Surgical Diagnosis, 2018
Spencer W. Beasley, John Hutson, Mark Stringer, Sebastian K. King, Warwick J. Teague
There are many rare causes of deformity of the limbs, including limb deficiency. Phocomelia, or telescopic foreshortening or a limb, is a rare congenital abnormality that became well known because it was the characteristic defect produced by thalidomide toxicity in the 1960s. Sprengel shoulder is a rare condition caused by failure of the scapula to descend from its original cervical position in the embryo. Craniocleidodysostosis, and cervical rib are seen occasionally. Scurvy once was common but now is rare. Another rare genetic cause of deformity is osteogenesis imperfecta. Birth injuries or other accidents can produce secondary deformity. In the leg, aplasia of the fibula may occur as part of the VACTERL association analogous to radial aplasia. Intrauterine compression causes severe growth failure in the leg. Lumps on the toes may be an exostosis or a digital fibroma.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Radiographic features: the upper limbs are more commonly affected than the lower limbs, and in the upper limbs the mesomelic segment more commonly affected than the rhizomelic. Findings include radial aplasia/hypoplasia (the humerus and ulna may also be involved), preaxial polydactyly/thumb duplication, triphalangeal thumb, and 2/3 syndactyly. Proximal radioulnar synostosis has been described. A broad hallux and clubfeet are recognised features. Limb changes may be bilateral, but not necessarily symmetrical. The malar and mandibular bones are hypoplastic.
Clinical Presentations and Diagnostic Imaging of VACTERL Association
Published in Fetal and Pediatric Pathology, 2023
Gabriele Tonni, Çağla Koçak, Gianpaolo Grisolia, Giuseppe Rizzo, Edward Araujo Júnior, Heron Werner, Rodrigo Ruano, Waldo Sepulveda, Maria Paola Bonasoni, Mario Lituania
In VACTERL, anatomical anomalies must occur between the 23rd and 56th day post-conception, as this embryological window is critical for the development of the vertebrae (23-32 days), heart, tracheoesophageal structures, forearm bones (29-41 days), and anorectal region (45-56 days). Malsegmentation of the vertebrae is the result of timing abnormalities in the segmentation clock. Anorectal and tracheoesophageal defects are due to disturbed mesodermal proliferation and migration, epithelial-mesenchymal interactions, and apoptosis. Radial aplasia can be caused by impairment in laying down, condensing, or chondrifying the angle of the radius. Renal and urinary tract anomalies may be the result of failed growth of the ureteric bud, metanephric mesenchyme, and mesonephros/mesonephric duct. Cardiac defects involve altered cardiac septal development, as atrioventricular septal defects and tetralogy of Fallot defects are common [13].
A case series review of patients with Thrombocytopenia and Absent-Radii syndrome (TARS) and their management during pregnancy
Published in Platelets, 2021
Daniel Halperin, Sue Pavord, Bethan Myers
Infants have bleeding problems, but platelet count rises rapidly within the first years, reaching near-normal levels in adulthood; exacerbations occur due to various stresses, infection, and diet in addition to pregnancy. Patients often have associated cardiac, renal, and joint problems, and cow’s milk intolerance. Limb abnormalities may be simple radial aplasia or involve skeletal structure akin to thalidomide. The radial artery is preserved suggesting primary aplasia rather than vascular insufficiency. Skeletal effects are also commonly observed in the legs and feet [2]. Occasionally affected females have urogenital anomalies such as absent uterus [3].