Titlebook: Limb Malformations; An Atlas of Genetic Stefan Mundlos,Denise Horn Book Dec 2014Latest edition Springer-Verlag Berlin Heidelberg 2014 Cong

農(nóng)學(xué)

Radiology of the Limbth most skeletal dysplasias, in many dysostoses there can be absence of entire bone segments. This may occur symmetrically or asymmetrically. Hypoplastic long bone segments also can be present either unilaterally or bilaterally. It is important to ascertain whether the hypoplasia is proximal, distal

執(zhí)拗

Surgical Management Principles for Congenital Upper Limb Malformationswo sides in bilateral cases differ. Furthermore, the special investigations to evaluate more deeply than the obvious phenotype are in fact no more than a shadow; for example, radiographs only cast a shadow of calcified tissue (bone), and therefore the full picture cannot be appreciated. Cartilaginou

經(jīng)典

Anthrp

Postaxial Polydactylynct population differences. PAP is about 10?times more frequent in blacks than in whites (~ 20 per 1,000 in blacks). PAP can be further subclassified into two types. In type?A, a well-formed extra digit articulates with metacarpal?V or VI. This type appears to be inherited in an autosomal dominant f

閹割

Greig Cephalopolysyndactyly Syndromelimbs are postaxial polydactyly of the hands (postaxial polydactyly type?B, such as a small digit attached by a skin tag to the medial border of digit?V) and preaxial polydactyly of the feet (duplication of the hallux). However, other combinations are possible with variable expressivity. The thumbs/

amplitude

敘述

Synpolydactylyve finger?V. The supernumerary digit may branch from metacarpal?IV, giving it a Y-shaped appearance, or from one of the proximal or middle phalanges, or it may appear as a completely duplicated digit. Syndactyly may be cutaneous or involve bony bridges between phalanges. Also seen are fusion of nail

LOPE

燈絲

Ellis–Van Creveld Syndrome stature is of prenatal onset and is disproportionate, with progressive acromesomelic shortening of the limbs. The nails are hypoplastic. Radiologically there is postaxial polydactyly with or without fusion of the metacarpals/phalanges. The tubular bones are short and show distalward shortening with

合唱隊(duì)