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

By Ghazi M. Rayan, Joseph Upton III

Physicians frequently have in basic terms partial wisdom of universal congenital hand and higher extremity anomalies and their linked syndromes. Surgeons generally locate those syndromes to be abstruse and congenital hand stipulations can signify an enigma even to pediatric geneticists. This ebook is designed to function a realistic, updated reference that would allow practitioners and scholars in quite a few disciplines to simply realize the most typical congenital higher extremity anomalies and syndromes. In overall, 37 congenital top extremity anomalies and 127 syndromes are mentioned. Salient and customary proposing good points are defined intimately and illustrated because of top of the range electronic colour pictures every time attainable. furthermore, proper history details is integrated on such features as incidence, etiology, pathogenesis and findings in different places within the body.

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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. b Surgical specimens of two neurofibromas. c Low-power 3 Neurofibromas Upper extremity These children do not present with caféau-lait lesions or nodular neurofibromas.

2009;123:124–33. 2 deletion syndrome Wagenmann-Froboese syndrome Von Recklinghausen Disease 23 Von Recklinghausen Disease AKA Neurofibromatosis type 1 (NF1) Hallmarks It is a neurocutaneous syndrome that affects the skin with café-au-lait spots and multiple fibromatous tumors that may become pedunculated along with tumors of the central and peripheral nervous system. Background In 1882, Friedrich D. 6), a German pathologist living in Strasburg, wrote the first monograph on “tumors of neurofibromatosis” as a report on skin disease [1].

The talus, distal femur, and tibia are most commonly involved. There is no association with malignancy. In fact, the diagnosis of Trevor disease is difficult and requires collaboration between the radiologist, pathologist, and orthopedist. General musculoskeletal There may be hemihypertrophy. Upper extremity Asymmetric calcified chondromatous-like overgrowth of epiphyses of carpal bones [4]. The condition has been described to occur in the hand [5] and elbow [6]. It was also reported to be bilateral affecting metacarpal and phalangeal bones.

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