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Growth in Distal Arthrogryposes

Chapter

Abstract

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.

Keywords

Cleft Palate Mastication Problem Fetal Movement Joint Limitation Height Gain 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Abbreviations

ARC

Arthrogryposis, renal dysfunction and neonatal cholestasis

CPK

Creatine phosphokinase

FBN2

Fibrillin 2

MYH3

Myosin heavy chain 3

MYH8

Myosin heavy chain 8

TNNI2

Troponin I fast-twitch isoform

TNNT3

Troponin T fast-twitch isoform

TPM2

Tropomyosin 2

Notes

Acknowledgments

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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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.Division of Medical Genetics, Department of Experimental Medicine“Sapienza – University of Rome”, San Camillo-Forlanini HospitalRomeItaly

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