Download Congenital Hand Anomalies and Associated Syndromes by Ghazi M. Rayan, Joseph Upton III PDF

By Ghazi M. Rayan, Joseph Upton III

Physicians usually have basically partial wisdom of universal congenital hand and top extremity anomalies and their linked syndromes. Surgeons in most cases locate those syndromes to be abstruse and congenital hand stipulations can symbolize an enigma even to pediatric geneticists. This e-book is designed to function a realistic, up to date reference that may permit practitioners and scholars in various disciplines to simply realize the most typical congenital top extremity anomalies and syndromes. In overall, 37 congenital top extremity anomalies and 127 syndromes are mentioned. Salient and customary offering gains are defined intimately and illustrated by means of top of the range electronic colour pictures each time attainable. additionally, suitable historical past details is incorporated on such features as incidence, etiology, pathogenesis and findings in other places within the body.

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Philadelphia: Elsevier Saunders; 2006.  124–7. 3. Allanson JE, Hall JG, Van Allen MI. Noonan phenotype associated with neurofibromatosis. Am J Med Genet. 1985;21:457–62. 4. Opitz JM, Weaver DD. The neurofibromatosis-Noonan syndrome. Am J Med Genet. 1985;21:477–90. 5. Croonen EA, van der BurgtI, Kapusta L, Draaisma JMT. Electrocardiography in Noonan syndrome PTPN11 gene mutation – Phenotype characterization. Am J Med Genet. 2008;146 A:350–353. 6. Witt DR, McGillivray BC, Allanson JE, et al. Bleeding diathesis in Noonan syndrome: a common association.

The disease changes its phenotype from childhood to adulthood with tendency to normalization [3]. The characteristic facial appearance includes hypertelorism, low set and posteriorly rotated ears with small lobules and deeply grooved philtral ridges. Other presentations may be undescended testes, a webbed neck, and congenital heart disease. General musculoskeletal Short stature is common. Fig. 9 Multiple fibromatosis a Multiple fibromatosis of the hand atypical of Noonan syndrome because of the high density of the neurofibromas.

The incidence is difficult to determine but varies from 1 in 1,000 to 1 in 2,500 live births. Often called the “hidden disease,” Noonan syndrome is one of the most common causes of congenital heart disease similar to Down syndrome. Presentation There are overlapping features of Noonan and other neurofibromatosis syndromes. The typical Noonan patient has feeding difficulties, a failure to thrive, and a mental disorder, which fortunately is mild in the majority [2]. The disease changes its phenotype from childhood to adulthood with tendency to normalization [3].

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