نتایج جستجو برای: preaxial polydactyly

تعداد نتایج: 1274  

1999
THOMAS SCHIMMANG MARIANNE LEMAISTRE ANDREA VORTKAMP ULRICH RÜTHER

Recent advances in the molecular and genetic analysis of mouse development have made it possible to address the molecular basis of processes involved in pattern formation and morphogenesis (for reviews see Rossant and Joyner, 1989; Gridley, 1991; Gossler and Balling, 1992; Rossant and Hopkins, 1992). This has been illustrated by the recent characterization of mouse mutants, which has led to the...

2011
Rudrajit PAUL

Polydactyly is a common congenital digital variation of the hand and foot, which is characterized by supernumerary digits. This condition can occur in one limb or can be exceptionally present in all four limbs; a condition called tetrapolydactyly. It may appear as isolated or in association with other birth defects. Polydactyly might be pre-axial, postaxial and central type, the post-axial bein...

Journal: :Journal of medical genetics 1969
J Mohan

In most of the reported pedigrees on human polydactyly, the manifestation of the trait has been attributed to a single autosomal dominant gene. That this gene is not always penetrant and exhibits a great degree of variable expressibility has been stressed by various authors (listed by Gates, 1946, and McKusick, 1966). By contrast, recessive polydactyly has been described by only a few authors (...

2017
Humayun Ahmed Hossein Akbari Abdolhasan Emami Mohammad R. Akbari

Syndactyly and polydactyly-respectively characterized by fused and supernumerary digits-are among the most common congenital limb malformations, with syndactyly presenting at an estimated incidence of 1 in 2,000-3,000 live births and polydactyly at a frequency of 1 in approximately 700-1,000 live births. Despite their relatively regular manifestation in the clinic, the etiologies of syndactyly ...

Journal: :Journal of medical genetics 1995
K M Unsinn N Neu A Krejci A Posch G Menardi I Gassner

The Pallister-Hall syndrome is characterised by specific facial anomalies, postaxial polydactyly, imperforate anus, and brain anomalies including a diencephalic hamartoblastoma. The hallmarks of the McKusick-Kaufmann syndrome are hydrocolpos owing to vaginal atresia, postaxial polydactyly, imperforate anus, and congenital heart defects. We report a patient with the unique features of hydrocolpo...

2017
Chuan He Yongcan Chen Kaixuan Yang Zhengxiao Zhai Wenjing Zhao Shuyun Liu Jinmei Ding Ronghua Dai Lingyu Yang Ke Xu Zhenxiang Zhou Caiju Gu Qizhong Huang He Meng

Polydactyly, a common heritable limb malformation in vertebrates, is characterized by supernumerary digits. In chickens, basic characteristics and rough dominant genes have been explored in past decades; however, the elaborate pattern of inheritance and the determinant gene remain obscure. In this study, different types of polydactylism were classified by the numbers and the shapes of toes, inc...

Journal: :Annales Academiae Medicae Stetinensis 2008
Aleksandra Gawlikowska-Sroka

Polydactyly is a common hereditary disorder in which extra or vestigial digits are present on the one or both sides of the extremities. It is ten times more frequent in Blacks than in Whites. Polydactyly occurs both in a sporadic form and in a hereditary form. In polydactyly type A, the extra digits contains phalanges, in polydactyly type B, there is no skeletal structure. The extra digit is ma...

Journal: :Journal of Nepal Medical Association 2009

2013
Hyo Hyun Seok Ji Ung Park Sung Tack Kwon

BACKGROUND Polydactyly of the foot is one of the most frequent anomalies of the limbs. However, most classification systems are based solely on morphology and tend to be inaccurate and less relevant to surgical methods and results. The purpose of this study is to present our new classification of polydactyly of the foot, which can serve as a predictor of treatment and prognosis. METHODS To fi...

2015
Nihat Demir Erdal Peker İbrahim Ece Sultan Kaba Kemal Ağengin Oğuz Tuncer

Short-rib polydactyly syndrome is an autosomal recessively inherited lethal skeletal dysplasia. The syndrome is characterized by marked narrow fetal thorax, short extremities, micromelia, cleft palate/lip, polydactyly, cardiac and renal abnormalities, and genital malformations. In cases with pulmonary hypoplasia, persistent pulmonary hypertension of the newborn can develop. In this paper, we pr...

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