Polydactyly presentations: A case report

Polydactyly is a duplication of the digits of the hands or feet. It is a congenital anomaly and can manifest as a single disorder or as a component of a syndrome. It is typically an autosomal dominant inherited condition with variable expression and incomplete penetrance. It is genetically heterogenic being caused by mutations in different genes. It manifests in different forms, based on the position of occurrence of the extra digit. It can occur as a single disorder as a component of a syndrome. Its presentation ranges from just a skin tag to a complete digit with the accompanying metatarsal or metacarpal bone. It can result in functional impairment or it may just be a cosmetically unacceptable digit with no functional impairment. Treatment depends on the nature of the extra digit as well as any functional impairment it may be causing. Surgical excision is employed and various reconstruction procedures are also employed in treatment, and must be well planned out to avoid a worsening of function. We present two cases; a 3-month-old baby girl presenting with a hereditary preaxial polydactyly (PPD) (Wassel type V) of both feet and a 29-year-old man with isolated postaxial polydactyly of the right foot with which was symptomatic.

Spontaneous Appearance and Transmission of Polydactyly in Dexter Cattle

A 3-yr-old Dexter cow and her yearling Dexter heifer calf exhibited polydactyly. Neither animal was linebred within 5 generations. This cow-calf pair represented the first reported occurrence of polydactyly in Dexter cattle in the US or abroad. Based upon external examination, the cow was classified as having a spontaneous unilateral case of polydactyly with an extra digit along the medial digit of the right front limb and the heifer was classified as having bilateral polydactyly because both front limbs exhibited an extra digit along the medial digit. Radiographic examination confirmed bilateral status of the heifer and revealed bilateral status of the cow. The front feet of the cow and heifer had extra bone formation consistent with an extra digit along the medial digit. Neither animal suffered from limited mobility to date or required hoof treatments. The cow produced a second calf from a different sire, a bull calf that did not appear polydactylous per external examination and was not examined radiographically. The two polydactylous animals will remain in the breeding herd to produce more study calves unless their fitness becomes compromised. Genetic aspects of the cases are discussed.

Identification of Genes involved in Postaxial Polydactyly, Sample of FATA territory, Pakistan

Postaxial Polydactyly (PAP) is characterized by fifth digit duplication in hands and/or feet. Two types of PAP including PAP-A, representing the development of well-formed extra digit, and PAP-B, representing the presence of rudimentary fifth digit, have been described. Both isolated and syndromic forms of PAP have been reported. Isolated forms of PAP usually segregate as an autosomal dominant trait and to date four loci have been identified. In the present study, we have described mapping of the first locus of autosomal recessive PAP type A on chromosome 13q13.3–13q21.2 in a consanguineous Pakistani family. In family with autosomal dominant forms of postaxial polydactyly, most of the affected individuals exhibit features representing type A PAP (Zhao et al.,2002; Galjaardet et al.,2003). In the respected family mapped on chromosome 13q13.3– 13q21.2, affected individuals showed the additional features of postaxial polydactyly.Several locus of causative genes are involved in this disease. To check the specified locus we use several microsatellite markers (D13S1246, D13S218, D13S1288, D13S1233, D13S263, D13S1312, D13S153, D13S328, D13S119, D13S632, D13S889,D4S90, D4S2936, D4S111, D4S43, D4S16114, D4S95, D4S127, D4S126, D4S179, D4S432, D4S2957, D4S431, D4S2366, D4S2935, D4S3007, D4S412, D4S3023, D4S2285 ). All the affected individuals showed no homozygosity. Genetic mapping of all the affected individuals showed that noval genes are responsible for the disease. In future, we will work on and try to find out the causative genes.

Superficial Angiomyxoma causing Torsion of an Extra-Digit

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POLYDACTYLY AND THE MAYA: A REVIEW AND A CASE FROM THE SITE OF PELIGROSO, UPPER MACAL RIVER VALLEY, BELIZE

A single right fifth metatarsal found in Tomb 1 at Peligroso, Belize exhibited a small deformity in the form of a small (7 mm) accessory digit emanating from the plantar surface at mid-shaft. This Type A postaxial polydactyly is the first archaeological example of polydactyly reported for Mesoamerica. Polydactyly is one of the more commonly reported morphological anomalies and thus its appearance in Maya populations would have been prevalent enough to demand explanation. A review of related terminology in pertinent Amerindian languages is presented as a means of exploring the manners in which digits and the human body are conceptualized. Maya iconographic representations of polydactyly at Palenque have parallels to other Mesoamerican renderings of supernumerary digits used to identify divinities and deified ancestors. However, the Peligroso mortuary context comprised disarticulated and commingled bones, suggesting that the individual did not have a distinctive social role related to the presence of an extra digit.

An Investigation into the Use of Stimulant Therapy during Pregnancy

Introduction. A lack of documentation of stimulant use during pregnancy means that doctors have difficulty advising narcoleptic and hypersomnolent patients.Objectives. To investigate the use of stimulant therapy in narcoleptic and hypersomnolent patients during pregnancy.Method. A search of clinic letters at a tertiary sleep clinic identified women who became pregnant whilst receiving stimulant therapy between 01/09/1999 and 18/11/2010. Fifteen patients were included in a telephone survey.Results. There were 20 pregnancies. The reported advice received with regards to stimulant use was variable. In 7 pregnancies, medication was stopped preconceptually: 1 had a cleft palate and an extra digit 6 had good foetal outcomes. In 8 pregnancies, medication was stopped postconceptually: 1 had autism and attention-deficit hyperactivity disorder; 7 had good foetal outcomes. In 5 pregnancies, medication was continued throughout pregnancy: 2 ended in miscarriage; 1 was ectopic; 2 had good foetal outcomes. The most common symptom experienced was debilitating hypersomnolence.Conclusion. There are no standardised guidelines for use of stimulants during pregnancy. Women have significant symptoms during pregnancy for which there is an unmet clinical need. More research is needed into whether medication can be safely continued during pregnancy, and if not, when it should be discontinued. Better standardized advice should be made available.