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PubMed2006

Identification of a doublet missense substitution in the bovine LRP4 gene as a candidate causal mutation for syndactyly in Holstein cattle.

Syndactyly in Holstein cattle is an autosomal recessive abnormality characterized by the fusion of the functional digits. This disorder has been previously mapped to the telomeric part of bovine chromosome 15. Here, we describe the fine-mapping of syndactyly in Holstein cattle to a 3.5-Mb critical interval using a comparative mapping approach and an extended pedigree generated by embryo transfer. We report genetic evidence for the exclusion of two genes previously suggested as candidates (EXT2 and ALX4) and describe the identification of a doublet mutation in complete linkage disequilibrium with syndactyly in one gene of the critical interval: LRP4. Finally, based on recent discoveries concerning the mouse mutants dan and mdig and a mouse knockout for Lrp4, we present solid evidence that the subsequent substitution in LRP4 exon 33 is a strong candidate causal mutation for syndactyly in Holstein cattle.

Amino Acid Sequence↗
PubMed1989

[Late results following surgical correction of syndactyly and symbrachydactyly].

Growth and the type of surgical treatment of the hand play an important role in the results of surgery in children. 29 patients have been operated on because of syndactyly and symbrachydactyly and were controlled. The following parameters were assessed: kind of incision and skin graft, functional results, x-ray to examine the skeleton and the depth of the commissure, colour of the skin graft and use of the hand. After operation of syndactyly all patients were able to use their hands normally, although full extend of flexion and extension was achieved only in 20 of 22 hands. In 5 divided pairs of fingers there was recurrence of syndactyly. In all cases except one, a split thickness skin graft has been used. After operative treatment of symbrachydactyly and complex syndactyly, full extent of flexion was achieved in 13 of 19 hands, in 6 hands the range of flexion was incomplete because of skeleton abnormalities. Recurrence occurred in 9 divided pairs of fingers; in 7 cases, a split thickness skin graft had been used. Despite this, all patients were able to use their hands normally. The use of split thickness skin grafts resulted in a 60% recurrence rate, whereas the use of full thickness skin graft led merely to 7.5% recurrence rate. Our results show the advantage of the full thickness skin graft. As a consequence, full thickness skin graft should be used in all cases. Furthermore, the operation should be performed at an early age, if fingers of unequal length have to be separated. Zig-zag incision should be used in all cases.

Child↗
PubMed1983

Syndactyly of the toes.

The experience gained through the management of 43 patients with syndactyly of the toes is presented. The incidence appears to be similar to that of syndactyly of the fingers. Type 1 syndactyly, or zygodactyly, always presented itself as a cosmetic problem; its correction is occasionally indicated and the procedure used is discussed. Type 2 syndactyly, or polysyndactyly, represents a functional problem and deserves surgical correction. My negative experience with the more complex procedures described for the correction of polysyndactyly is presented as well as my satisfaction with the simpler procedures. Suggestions for management are offered.

Esthetics↗
PubMed2005

Contrary intermittent skin release of complete syndactyly without skin graft in adults.

INTRODUCTION: There are many different surgical treatment techniques of complete syndactyly. Most of them are techniques involving using skin grafts. We developed a surgical technique that does not require skin grafts, which cause problems in the distal nail border pulp and interdigital web space. MATERIALS AND METHODS: Syndactyly release was performed in 12 web spaces of 11 adult male patients. The average age was 21. In addition to a zig-zag incision, contrary intermittent skin release was performed. Primary coverage of the interdigital web space and nail border pulp was achieved without skin graft. RESULTS: We obtained good results by the contrary intermittent skin release method that we developed, in adult complete syndactyly patients who had no chance for the surgical treatment due to several reasons, previously. CONCLUSION: With such a surgical technique, in our cases we obtained successful results, both cosmetic and functional. The presented technique is an alternative method for syndactyly release without using skin graft in adult patients.

Adult↗
PubMed2002

[Microsurgical repair of syndactyly of the fingers in children].

OBJECTIVE: To evaluate the effectiveness of microsurgical technique for repairing syndactyly of the fingers in children. METHODS: Microsurgical repair of syndactyly of the fingers was performed in 32 children. The skin joining the syndactyly was incised and relaxed under microscope, and dorsal metacarpal flap of comparable size was used to repair the lateral skin defect of the finger and also to reconstruct the finger web. RESULTS: All the flaps survived without scar leaving on the lateral skin of the fingers, and the reconstruction of the finger web was satisfying. CONCLUSION: Microsurgical technique is applicable in the surgical repair of syndactyly of the fingers in children.

Child↗
PubMed1976

Syndactyly of upper limb. Morphogenesis, classification, and management.

The distinction between primary and secondary syndactyly is made on the basis of their relation to the morphogenesis. The latter is associated with antecedent malformation which results in subsequent refusion of parts. Based on these considerations, a practical classification is suggested. The management of the various types of malformations is considered in relation to the complexity of the structures involved. Certain deformities require very early treatment in order to permit prehensile function to the developing infant, or to release the impaired part. It is desirable to complete all surgery before the child enters school. The severe complex syndactyly could rarely be solved by one operation. Normal appearance and function are rarely attained and, with growth, newer problems of imbalance and contracture appear. While rehabilitation of the hand is seldom needed for the children with cutaneous syndactyly, the severe deformities associated with complex syndactyly often require supervision in order to regain the potential function and simple dynamic splints are very helpful.

Contracture↗
PubMed1996

Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

Apert syndrome is a distinctive human malformation characterized by craniosynostosis and severe syndactyly of the hands and feet. It is caused by specific missense substitutions involving adjacent amino acids (Ser252Trp or Pro253Arg) in the linker between the second and third extracellular immunoglobulin domains of fibroblast growth factor receptor 2 (FGFR2). We have developed a simple PCR assay for these mutations in genomic DNA, based on the creation of novel (SfiI) and (BstUI) restriction sites. Analysis of DNA from 70 unrelated patients with Apert syndrome showed that 45 had the Ser252Trp mutation and 25 had the Pro253Arg mutation. Phenotypic differences between these two groups of patients were investigated. Significant differences were found for severity of syndactyly and presence of cleft palate. The syndactyly was more severe with the Pro253Arg mutation, for both the hands and the feet. In contrast, cleft palate was significantly more common in the Ser252Trp patients. No convincing differences were found in the prevalence of other malformations associated with Apert syndrome. We conclude that, although the phenotype attributable to the two mutations is very similar, there are subtle differences. The opposite trends for severity of syndactyly and cleft palate in relation to the two mutations may relate to the varying patterns of temporal and tissue-specific expression of different fibroblast growth factors, the ligands for FGFR2.

Acrocephalosyndactylia↗
PubMed1997

Repair of incomplete simple syndactyly by a web flap on a subcutaneous tissue pedicle.

A new web flap on a subcutaneous tissue pedicle was developed to repair incomplete simple syndactyly. It was isolated from the top skin in syndactyly and transferred down into the depth of the web space to create a web commissure. With use of this technique, aesthetic appearance of the web and well-functioning fingers were gained. Moreover, this technique made full use of the original skin of the syndactyly, and a skin graft was not needed. We report here the operative technique, which presents another alternative for repair of incomplete simple syndactyly.

Adolescent↗
PubMed1982

Syndactyly type V.

We report a mother and three of her four children with type V syndactyly. All the patients had metacarpal 4-5 fusion. The other hand anomalies consisted of abnormal origin of the fifth fingers, anomalies of digits 4 and 5, brachydactyly, syndactyly, camptodactyly, absent distal interphalangeal creases, and unusual palmar dermatoglyphics. Anomalies of the feet consisted of varus deviation of the metatarsals, valgus deviation of the toes, hyperplasia of the first ray, and hypoplasia of the third to fifth rays. None of the patients had metatarsal fusions. The anomalies were similar in the mother and her two older sons far less severe in her daughter. This daughter also had a congenital anomaly of the urinary tract. Anomalous and/or defective muscle and tendon insertions were demonstrated in one patient during an operation. Syndactyly V is transmitted as an autosomal dominant trait.

Abnormalities, Multiple↗
PubMed1991

Syndactyly type IV/hexadactyly of feet associated with unilateral absence of the tibia.

We report on a newborn girl with syndactyly type IV, hexadactyly of feet, and right tibial hemimelia. She has 5 other relatives with identical anomalies of the hands and feet transmitted as an autosomal dominant trait. Syndactyly type IV is rare as is absence of the tibia. We suggest the possibility that syndactyly type IV may be a more complex entity, including lower limb malformations, and transmitted as autosomal dominant with variable expressivity.

Abnormalities, Multiple↗
PubMed1992

Cleft hand, syndactyly and hypoplastic thumb.

The clinical features of 58 patients with typical cleft hand were examined and compared with 86 patients with syndactyly between the long and ring fingers, 27 patients with syndactyly between the ring, little and other fingers, 53 patients with hypoplastic thumb and 100 patients with symbrachydactyly. The clinical findings of the typical cleft hand resembled those of syndactyly. There were two unusual cases of typical cleft hand associated with hypoplastic thumb, congenital heart anomalies and absence of the axial triradius. One of these also had cleft lip and palate. The critical embryonic period of the heart anomaly is early, while that of the cleft lip and palate is late. These findings suggest that an embryo with typical cleft hand and hypoplastic thumb results from impairments at two different times in the early embryonic period.

Abnormalities, Multiple↗
PubMed1992

The pulp plasty: a composite graft for complete syndactyly fingertip separations.

Composite grafts of skin and subcutaneous fat harvested from the glabrous non-weight-bearing areas of the foot were used to graft 34 fingertips after separation of 23 complete syndactyly webs in 13 patients. Simple complete syndactylies accounted for 17% and complex complete syndactylies accounted for 83%; synonychia was encountered in 70%. Follow-up averaged 13.9 months (minimum, 2 months, maximum 33 months). All patients had 100% take of the composite graft. Subjective gradings were 94% good, 6% fair, and there were no poor results. This technique provides a relatively normal contour and satisfactory pad to the fingertip.

Adipose Tissue↗
PubMed2005

Long-term results of primary syndactyly correction by the trilobed flap technique.

This paper describes the long term results of a surgical technique used for correction of syndactyly. This technique has been practised by the senior author since 1987 and was published in 1990. The technique involves the use of a dorsal trilobed flap for the reconstruction of the commissure and zig-zag incisions for the fingers. This technique does not require the use of skin grafts. This technique has been used in 62 webs in 44 patients. In this total group, there were 30 patients of primary hand syndactyly with 40 webs. Seventeen patients of primary syndactyly with 25 webs were followed up. The follow-up of these patients ranged from 2 years to 12 years. The long term results reveal a simple, effective technique which does not require the use of skin grafts, and is associated with good functional and far superior cosmetic results.

Child↗
PubMed2005

A variant of Cenani-Lenz syndactyly (CLS): review of the literature and attempt of classification.

An oligodactylous variant of Cenani-Lenz syndactyly and its surgical treatment is presented. The deformity is believed to be of autosomal recessive inheritance and caused by a disordered axial and longitudinal differentiation of the upper and lower extremities. The classical form is mainly characterised by a complete syndactyly of the hands. Malformations may also affect the bones of the forearm and, to a lesser extent, the lower limbs. We analysed clinical features and compared them with those previously described. According to our research of literature and our clinical findings there seem to exist two grossly different clinical phenotypes: spoon hand type and oligodactyly type. Typical constant clinical features such as carpal, metacarpal and digital synostoses, disorganisation of carpal bones, reduction of digital rays and syndactyly of toes are found in the reported cases. Inconstant features such as radio-ulnar synostosis, brachymesomelia, metatarsal synostoses and reduction of metatarsal rays may be present. In our case, successful bilateral digital ray individualisation and tendon transfers were performed to construct a grip function of the grossly deformed hands.

Fingers↗
PubMed2005

Three-square-flip-flap reconstruction for post burn syndactyly.

INTRODUCTION: Burns of the hands may result in the formation of web space contractures-post burn syndactyly. We present our experience using the three-square technique originally described by Bandoh for minor syndactyly. METHOD: Tissues of the contracted web are regard as forming three facets of a cube. If elevated and transposed 90 degrees on their base the facets will fall into place and line the interior of the cube creating a deepened web-space. The first flap is based on the web itself either dorsally or volarly. The second flap is based distally on one of the fingers. The third flap is based laterally on the other finger. Surgery is followed by a splinting regimen. RESULTS: The design of the flaps is simple and the operation is easy to perform. This technique has achieved good functional and cosmetic results; there have been no flap losses or significant complications. CONCLUSION: The three-square-flip-flap is a simple reliable and safe method for the treatment of post burn syndactyly.

Burns↗
PubMed1977

Syndactyly--a review and long term results.

Syndactyly is classified and the principles of its surgical treatment discussed. The notes of eighty-five patients who had 222 webs between them were reviewed. A long term follow-up was carried out on thirty-two of these patients who had seventy-six clefts separated. The sexual and anatomical distribution of the syndactyly was investigated. The results of surgery were assessed including complications, and the relationship of complications to the type of graft used and the age at operation. It is suggested that complicated syndactyly is often separated at too early an age.

Age Factors↗
PubMed1995

Tissue expansion for Apert's syndactyly.

Tissue expansion is useful in post-traumatic reconstruction in the upper extremity. Its use has also been proposed in congenital syndactyly. Expanded local skin flaps would in theory provide locally appropriate cover, obviating the need for skin grafts. We report a retrospective assessment of tissue expansion in the management of Apert's syndactyly. Despite theoretical benefits, tissue expansion significantly increased the required number of operations. The technique was associated with an unacceptable rate of complications, and generated inadequate skin flaps, and web spaces requiring a higher rate of revision than traditional techniques. Despite expectations, tissue expansion for Apert's syndactyly proved disappointing and is not advocated.

Child, Preschool↗
PubMed1979

Evaluation of the operative treatment of syndactyly.

A review of the records of 61 patients with 176 surgically treated webs was completed to evaluate the results of the different operative techniques used to separate the fingers. The postoperative follow-up period averaged 14 years, with a range from 2 to 38 years. The patients were assessed in two groups: those with major associated anomalies and those in whom syndactyly was the principal anomaly. Recurrence of the webs and flexion and extension contractures occurred more often when split-thickness grafts were used. To obtain a satisfactory result, a second procedure was necessary in 59% of patients with major associated anomalies, and in 30% of the patients who had syndactyly as the principal abnormality. Two types of patients were found to require subsequent operations: children treated prior to 18 months of age and those with complex syndactyly.

Abnormalities, Multiple↗