Distal arthrogryposis is an autosomal dominant condition characterized by multiple congenital contractures mainly affecting hands and feet. To date, no less than 12 different clinical subtypes have been delineated based on additional craniofacial anomalies. For five of them, the causative genes have been identified and most encode for components of the sarcomeric complex of the striated muscles. Prognosis of distal arthrogryposis is usually good. However, orthopedic problems related to chronic joint limitation and short stature have a major impact on quality of life. In distal arthrogryposis, the entire spectrum of causes impairing final height is still unknown. Possible factors include (i) limitation of long bone growth due to chronic joint disuse, (ii) mastication problems and dysphagia due to craniofacial muscle involvement, (iii) limitation of upper limb movements, (iv) additional features of fetal akinesia/hypokinesia deformation sequence (micrognathia, cleft palate, lung hypoplasia, and lack of maturation of the gut), and (v) pleiotropic effect of the causative gene. Management of patients with distal arthrogryposis should be focused on the monitoring of height gain. Particular care should be taken on neonatal complications, comprising suction defects, dysphagia and regurgitations, pulmonary insufficiency, and short gut syndrome. Later in life, appropriate treatment of lower limb joint contractures and spinal curvature anomalies could determine amelioration of final height attainment. Growth hormone deficiency, although exceptional, could be superimposed on distal arthrogryposis and should be appropriately investigated and treated.
Cleft Palate Mastication Problem Fetal Movement Joint Limitation Height Gain
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Arthrogryposis, renal dysfunction and neonatal cholestasis
Myosin heavy chain 3
Myosin heavy chain 8
Troponin I fast-twitch isoform
Troponin T fast-twitch isoform
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The author thanks Prof. Judith G. Hall for helpful suggestions and Wiley Publisher for permission to publish growth charts (Fig. 135.5).
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