Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Polydactyly”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 163 records · Page 9Linked to original sources
PubMedDate not supplied

Concomitant syndactyly and polydactyly in a pediatric foot.

Syndactyly and polydactyly in a child may warrant surgical treatment to avert resultant emotional and psychologic problems. The authors present a unique case report of a bilateral polydactyly of the hallux and bilateral syndactyly of the second and third toes in a normal 6-year-old Hispanic female. The article will discuss the surgical management of these problems, using the skin harvested from resection of the extra hallux for the adjacent side of the lesser toes after desyndactyly.

Abnormalities, Multiple↗
PubMed1999

Short rib-polydactyly syndrome: more evidence of a continuous spectrum.

We report a fetus with radiological features of the four established types of short rib-polydactyly syndrome (SRPS). The phenotype of this fetus supports the previously suggested hypothesis that the different subtypes of the short rib and polydactyly syndrome are not single entities, but rather, part of a continuous spectrum with variable expressivity.

Abnormalities, Multiple↗
PubMed2001

Retinoblastoma with an unusual presentation in a child with polydactyly. Clinical associations and genetic implications.

Retinoblastoma is the most common intraocular malignancy of childhood. It may rarely present with white spots on the iris and pseudohypopyon. We report a case of an 11-month old child with polydactyly with this presentation of retinoblastoma. There was no positive family history of the disease. Investigations included anterior segment examination under anaesthesia, fundoscopy with scleral indentation, A- and B-scan ultrasound and MRI examination of the head. This was a Reese Ellsworth group 5 retinoblastoma with an indication for enucleation. Pathology reports of the enucleated globe showed choroidal and ciliary body invasion. Therefore, subsequent chemotherapy treatment was undertaken. The retinoblastoma gene is located in the long arm of chromosome 13. Almost all familial and bilateral cases carry the abnormal gene. In unilateral isolated retinoblastomas--as in our case--most patients do not have a germinal mutation, however, only DNA analysis can safely exclude that. We also discuss possible factors having a link to both polydactyly and retinoblastoma.

Humans↗
PubMed2002

Three-dimensional ultrasound evaluation of short-rib polydactyly syndrome type II in the second trimester: a case report.

Prenatal diagnosis of short-rib polydactyly syndrome is possible and has been reported in literature, but a precise ultrasound diagnosis is not easy. We report a case in which three-dimensional ultrasound was used in the evaluation of the disorder. The contribution and potential application of three-dimensional sonography in the prenatal diagnosis of short-rib polydactyly syndrome and other fetal skeletal malformations is discussed.

Adult↗
PubMed2004

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.

BACKGROUND AND OBJECTIVE: Megalencephaly (MEG) or enlarged brain occurs as a mild familial variant with normal brain structure, but otherwise is an uncommon human brain malformation that may be associated with significant developmental and neurological problems. It has been classified into anatomic and metabolic subtypes. The clinical findings associated with anatomic megalencephaly have been variable and few distinct subtypes have been described. We report five unrelated children with severe congenital MEG associated with polymicrogyria (PMG), postaxial polydactyly (POLY) and hydrocephalus (HYD). METHODS: The clinical records and brain MRI of five patients have been reviewed. RESULTS: All patients had striking MEG that was symmetric in three of the five patients, and mildly asymmetric in two. The birth OFC was between +2 and +4 SD. The gyral pattern was irregular with microgyri typical of PMG, which was most severe in the perisylvian region in all five patients. Four of the five had hydrocephalus treated with a shunt. Subsequently, one of the shunted patients had small ventricles while the others had mildly to moderately enlarged lateral ventricles. Three of the five patients had postaxial polydactyly of all four limbs. The corpus callosum was dysmorphic in one patient with a fused rostrum and genu, and intact although mildly thin in the others. None were abnormally thick. All patients had severe mental retardation; three had seizures and another had an epileptiform EEG. CONCLUSION: We believe this constellation of findings (MEG-PMG-POLY-HYD) comprises a new and distinct malformation syndrome that we designate the MPPH syndrome.

Brain↗
PubMed1998

Urinary hydrocolpos, cloacal malformation and pre-axial polydactyly: a rare variant of neonatal hydrocolpos.

Hydrocolpos is characterized by a vaginal obstruction with cystic dilatation of the vagina. The latter is usually caused by accumulation of cervical and endometrial mucus but in rare instances urine is accumulated through a vesicovaginal fistula proximal to the obstruction. Hydrocolpos and hydrometrocolpos may be associated with other malformations, such as postaxial polydactyly, anal atresia, esophageal atresia, renal agenesis, genital anomalies, and cardiopathy. Each neonate presenting with hydrocolpos should be evaluated for other clinically silent malformations, such as hamartoblastoma of the hypothalamic region. We report a patient with urinary hydrocolpos and cloacal malformation; it is the first case of hydrocolpos with pre-axial polydactyly. We briefly describe embryogenesis of the different types of vaginal obstruction and discuss prenatal and neonatal diagnosis and differential diagnosis.

Abnormalities, Multiple↗
PubMedDate not supplied

[Short rib-polydactyly syndromes].

The authors report on a newborn which died only a few hours after birth. It manifested generalized dropsy and ascites, a central upper lip cleft, narrow thorax, severe dysraphia, short limbs but normal-length trunk, and brachydactyly. Particularly striking radiologic findings were the extremely short, horizontal ribs and a shortening of the long bones, with rounded calcification zones. On the basis of comparison with other cases of short rib-polydactyly syndromes (SRPS) and other chondrodysplasias, this case was classified as Majewski's syndrome, even though there was no polydactyly and the shortness of the tibiae was not as extreme as in typical cases.

Adult↗
PubMed2000

Ectopic respiratory mucosa in the skin associated with skeletal malformation and polydactyly.

We report a 19-year-old man with congenital erythematous plaque on his left arm that was found histopathologically to be composed of respiratory mucosa. The patient had a triphalangeal thumb and polydactyly in the left hand. This is, to our knowledge, only the third case of ectopic respiratory epithelium presenting as a superficial lesion in the skin to be reported in the English literature, and the first case associated with skeletal malformation and polydactyly.

Adult↗
PubMed2000

"Face to face": a new method for the treatment of polydactyly of the thumb that maximises the use of available soft tissue.

Some patients with distal phalangeal polydactyly of the thumb have severe hypoplastic pulps that are difficult to make sufficiently large with either the fillet flap method or a symmetrical combination, the Bilhaut-Cloquet method. We have devised a new method to reconstruct the largest possible pulp by resecting only a minimum amount of soft dorsal skin tissue with one nail and not resecting any of the palmar skin of the thumbs. By contrast, other procedures require some resectioning of soft tissue of both the dorsal and the palmar skin. We have treated 13 cases with distal phalangeal polydactyly of the thumb since 1988 in this way. All the thumbs were successfully reconstructed with a sufficiently large pulp. The only problem was slight instability of the skin of the pulp after the operation, but this condition gradually improved during a five-year follow up. We think that this method facilitates the reconstruction of a sufficiently large pulp when both bifid pulps are hypoplastic.

Child, Preschool↗
PubMed2002

Polydactyly: a study of four generations of a Turkish family including an affected member with bilateral cleft lip and palate.

Polydactyly is one of the most common congenital deformities of the hands. It can occur as an isolated disorder, in association with other malformations of the hands or feet, or as part of a syndrome. It can occur sporadically but it can also be inherited with a mainly autosomal dominant inheritance. We present a Turkish family with affected members in four generations. Bilateral duplication of the second digit in both hands and feet with 24 digits in total was the most common pattern, but one affected member had 26 digits: seven on each hand and six on each foot. In addition, another affected member had complete bilateral cleft lip and complete cleft palate combined with bilateral hand and foot polydactyly without any syndromic association. The pedigree of the affected members of this family suggests an autosomal dominant mode of inheritance, but genetic expression is variable.

Adult↗
PubMed2003

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.

Unequivocal identification of the full composition of a gene is made difficult by the cryptic nature of regulatory elements. Regulatory elements are notoriously difficult to locate and may reside at considerable distances from the transcription units on which they operate and, moreover, may be incorporated into the structure of neighbouring genes. The importance of regulatory mutations as the basis of human abnormalities remains obscure. Here, we show that the chromosome 7q36 associated preaxial polydactyly, a frequently observed congenital limb malformation, results from point mutations in a Shh regulatory element. Shh, normally expressed in the ZPA posteriorly in the limb bud, is expressed in an additional ectopic site at the anterior margin in mouse models of PPD. Our investigations into the basis of the ectopic Shh expression identified the enhancer element that drives normal Shh expression in the ZPA. The regulator, designated ZRS, lies within intron 5 of the Lmbr1 gene 1 Mb from the target gene Shh. The ZRS drives the early spatio-temporal expression pattern in the limb of tetrapods. Despite the morphological differences between limbs and fins, an equivalent regulatory element is found in fish. The ZRS contains point mutations that segregate with polydactyly in four unrelated families with PPD and in the Hx mouse mutant. Thus point mutations residing in long-range regulatory elements are capable of causing congenital abnormalities, and possess the capacity to modify gene activity such that a novel gamut of abnormalities is detected.

Animals↗
PubMed1995

Familial Saethre-Chotzen syndrome with or without polydactyly of the toe.

A family with Saethre-Chotzen syndrome with or without polydactyly of the great toes is presented. Saethre-Chotzen syndrome with polydactyly of the great toes has been reported as Robinow-Sorauf syndrome. Both syndromes were observed in this family. This suggests that Saethre-Chotzen syndrome and Robinow-Sorauf syndrome fall within the same clinical spectrum, and the cause is a pleiotropic effect, which is variously expressed.

Acrocephalosyndactylia↗
PubMed2002

Treatment of lateral ray polydactyly of the foot: focusing on the selection of the toe to be excised.

The purposes of this study were to evaluate the results of the operative treatment of lateral ray polydactyly and to consider appropriate surgical procedures, especially focusing on the selection of the toe, lateral toe or medial toe, to be resected. Twenty-two patients with lateral ray polydactyly foot (25 individual feet) at an average of 71 months' follow-up were included in this study. Cases were classified morphologically into three types on the basis of Hirase's configuration. In addition, these types were divided into two subtypes, metatarsal and phalangeal, on the basis of radiographic evaluation of the level of duplication. The clinical evaluations of the reconstructed toe were performed, and these results were investigated according to their morphologic classification and excised toe group. The distinctive problem of medial toe excision is valgus deformity. Eight of 25 toes retained persistent valgus deformity, and all of these cases were in the medial toe excision group. On the other hand, a distinctive problem in lateral toe excision is postoperative pain. Two patients suffered from postoperative pain in phalangeal type cases in the lateral toe excision group, and the remaining medial toe had a medial protuberant middle phalanx. The pain occurred at that protuberant point. Based on their experiences, the authors created an algorithm for selection of the toe to be excised. In metatarsal type cases, from a functional perspective, the toe that has a radiographically dominant metatarsus should be retained. On the other hand, in phalangeal type cases, the authors give priority to shape rather than function, and they excise the morphologically smaller toe independent of the condition of the phalanx as viewed on radiography. If the medial toe and the lateral toe are approximately the same size, the authors excise the lateral toe to avoid valgus deformity. When the lateral toe has severe valgus deformity that seems unlikely to be correctable intraoperatively, the lateral toe should be considered for excision even if it is larger than the medial toe.

Adolescent↗
PubMed2005

Experience with the surgical treatment of radial polydactyly in adults.

PURPOSE: The aim of this study is to investigate the functional and cosmetic outcome after surgical reconstruction in adult patients. METHODS: Eleven hands of the 10 adult patients with radial polydactyly were treated surgically. Clinical and radiologic examination was performed and cases were classified according to the Wassel system. The outcome was evaluated according to the Modified Wood criteria. RESULTS: Average age of the patients was 20 years (range, 19-23 years) and all patients were male. All of the patients were admitted with the social consequences of the cosmetic problems resulting from the anomaly. Cosmetic and functional results were excellent in 9 cases and good in 2 cases. CONCLUSION: The findings of this study revealed that radial polydactyly can be surgically reconstructed satisfactorily in adulthood. However, the fact that these patients were mainly admitted as a result of the psychosocial consequences of the cosmetic aspect of the anomaly, we concluded that regardless of age, surgery should not be delayed after diagnosis.

Adult↗
PubMed1994

Rudimentary polydactyly.

A case of rudimentary polydactyly on the radial aspect of the thumb of a 4-year-old male was examined. Histologic examination revealed hyperkeratosis and acanthosis in the epidermis and large numbers of nerve bundles in the dermis. With immunoperoxidase staining for S-100 protein, the nerve corpuscles were positively stained. We think that rudimentary polydactyly is a kind of congenital traumatic neuroma and that the possible cause may be intrauterine amputation.

Child, Preschool↗
PubMed1996

Dandy-Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome.

Hydrolethalus syndrome consists of hydrocephalus, polydactyly, micrognathia, midcranial malformations, visceral abnormalities and perinatal lethality. It was first described in Finland, and only a few other cases outside Scandinavia are known. We report the first Hungarian patient who displayed many signs of the syndrome but had no cleft lip and visceral abnormalities. This observation suggests the existence of oligosymptomic hydrolethalus syndrome, and suggests that Dandy-Walker malformation with polydactyly may be a manifestation of the hydrolethalus syndrome.

Adult↗
PubMed1997

Polydactyly and fetal hydantoin syndrome: an additional component of the syndrome?

We report a 3-year-old girl with fetal hydantoin syndrome (FHS) whose mother had received phenytoin 600 mg/day throughout gestation. She had growth retardation, mental deficiency, craniofacial dysmorphism and iris colomobata specific to FHS. However, the patient did not have the distal phalangeal hypoplasia which is associated with FHS; instead, she had polydactyly of the right foot. This seems to be the first FHS case in the literature with polydactyly.

Abnormalities, Drug-Induced↗
PubMed2006

Rudimentary polydactyly in an adult: an unusual presentation to a dermatological surgery unit.

Accessory digits or polydactyly present uncommonly to dermatologists. Usually they are treated by ligature in the neonatal period or by surgery in childhood. We report a 38-year-old man who presented to a dermatological surgery unit for treatment of a lifelong lesion on the ulnar aspect of his right fifth finger. Clinically this appeared to be a miniature accessory digit and this was discussed with the patient. Subsequent histological examination of the excision specimen confirmed the clinical diagnosis. Further questioning of the patient revealed a strong family history of polydactyly.

Adult↗