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...

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...

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...

Thumb polydactyly is reported to be the most common congenital anomaly of the hand in Japan. The floating type is not particularly rare, accounting for 0.9 to 15% of all cases of thumb polydactyly. However, to the best of our knowledge, there has been only one case of thumb polydactyly with a floating ulnar thumb, reported by Onizuka. Herein, we report a case very similar to that reported by On...

BACKGROUND Polydactyly represents a heterogeneous group of congenital hand and foot anomalies with variable clinical features and diverse etiology. Preaxial polydactyly type I (PPD1) is the most frequent form of preaxial polydactyly. The etiology of sporadic PPD1 remains largely unknown and the relative contribution of genetic and environmental factors is not clearly defined. The primary goals ...

Triphalangeal thumb (TPT), a long, finger-like thumb with three phalanges instead of two, is regarded as a subtype of preaxial polydactyly. It can occur as a sporadic disorder, but is more often seen as a dominant familial trait. We describe four white Dutch families in which triphalangeal thumb has variable expression and is sometimes associated with preaxial extra rays, rudimentary postaxial ...

This case report presents a case of Fanconi's Anemia with an unusual thumb polydactyly in a 2-year-old boy. The extra thumb had no nail, nail bed and distal phalanx. The extra thumb had no active motion. The duplication of the thumb occurred at the carpometacarpal joint but its morphology did not match with any classification described for thumb polydactyly. Although his thumb polydactyly was a...

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...

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...