1/34. dancing girl flap: a new flap suitable for web release.To create a deep web, a flap must be designed to have a high elongation effect in one direction along the mid-lateral line of the finger and also to have a shortening effect in the other direction, crossing at a right angle to the mid-lateral line. The dancing girl flap is a modification of a four-flap Z-plasty with two additional Z-plasties. It has a high elongation effect in one direction (>550%) and a shortening effect in the other direction at a right angle (<33%), creating a deep, U-shaped surface. This new flap can be used to release severe scar contracture with a web, and is most suitable for incomplete syndactyly with webs as high as the proximal interphalangeal joint.- - - - - - - - - - ranking = 1keywords = long (Clic here for more details about this article) |
2/34. Imperforate anus in Feingold syndrome.A father and daughter had the characteristic findings of Feingold syndrome including microcephaly, short palpebral fissures, brachydactyly with clinodactyly of fifth fingers, and bilateral syndactyly of second to third and fourth to fifth toes. The infant presented with long-gap esophageal atresia without fistula (type A). Her father, who had short stature and learning disabilities, had congenital imperforate anus with a recto-vesical fistula. This is the first report of distal intestinal atresia in Feingold syndrome.- - - - - - - - - - ranking = 0.33333333333333keywords = long (Clic here for more details about this article) |
3/34. Variable expression of isolated familial long-ring-little syndactyly.A family with isolated long-ring-little syndactyly is reported to demonstrate that the responsible autosomal gene may cause either simple or complex syndactyly.- - - - - - - - - - ranking = 1.6666666666667keywords = long (Clic here for more details about this article) |
4/34. A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly.We report the case of a 9-year-old Japanese boy with spondyloperipheral skeletal dysplasia associated with facial dysmorphism, pelvic abnormalities, and distinctive hands and feet. Radiographic manifestations included mild platyspondyly with posterior scalloping, small flared ilia with shallow acetabulae, mesomelic shortening of long bones, marked delay of carpal bone maturation, and brachydactyly with hypoplastic middle and terminal phalanges bilaterally in both hands and feet. There was bilateral soft tissue syndactyly of the 2nd and 3rd interdigital spaces of the hands, the 2nd interdigital space of the feet, with hypoplastic nails. The clinical and radiographic manifestations in this case appear to represent a unique type of skeletal dysplasia.- - - - - - - - - - ranking = 0.33333333333333keywords = long (Clic here for more details about this article) |
5/34. Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings.Dolichospondylic dysplasia (DD) is a rare skeletal dysplasia primarily characterized by tall vertebral bodies and disproportionate short stature. Radiographic manifestations include tall vertebral bodies and gracile bones of the hands. patients usually have eye and ear findings in addition to borderline mental retardation; however, tall vertebral bodies and slender tubular bones are also seen in the 3-M syndrome. patients with the 3-M syndrome have a characteristic face with a triangular shape, frontal bossing, a flattened malar region, full eyebrows, a short nose with a bulbous tip, upturned nares, and full lips. We present two unrelated patients who share a distinct phenotype and have tall vertebral bodies, overtubulation of long bones, and short tubular bones of the hands and feet. We discuss the overlapping and distinguishing features between DD and the 3-M syndrome. Patient 1 was a 13-year-old female, and patient 2 was an unrelated adult female. These patients had normocephaly and short stature. They shared a common phenotype consisting of mild malar hypoplasia, a narrowed nasal body with a fleshy tip, full lips, and normal intelligence. In addition, they showed mild hand and foot abnormalities. These two patients lack many of the typical clinical features of both DD and the 3-M syndrome. They share a common phenotype and likely represent a distinct disorder. The spectrum of disorders with tall vertebral bodies as a key feature may include different entities that may be further defined with the characterization of the molecular defect(s).- - - - - - - - - - ranking = 0.33333333333333keywords = long (Clic here for more details about this article) |
6/34. Open treatment of syndactyly of the foot.The aim of reconstruction of the webs for syndactyly of the foot is cosmetic improvement, so skin grafting should be avoided. We present our long-term results of 19 feet with simple cutaneous syndactyly in 15 patients who were treated by an open technique. The bottom of the web was covered with a dorsal rectangular flap and the remaining skin defect was left open to epithelialise spontaneously. This took about 4 weeks. After a mean follow-up of 5.7 years (range 3-9), no hypertrophic scar or pigmentation of the skin had developed. Creeping of the web was seen only during the first postoperative year. The final depth of the web satisfied the families of all patients. As the aim of web reconstruction for syndactyly of the foot is purely cosmetic, we conclude that this simple method is reasonable treatment.- - - - - - - - - - ranking = 0.33333333333333keywords = long (Clic here for more details about this article) |
7/34. focal dermal hypoplasia (Goltz syndrome): report of two cases with minor cutaneous and extracutaneous manifestations.Two women, ages 33 and 16 years, had focal dermal hypoplasia (Goltz syndrome) with unusual, minimal clinical manifestations. The lesions consisted of patchy, atrophic, scaly, telangiectatic macules arranged in a linear pattern along Blaschko's lines, involving the anterior and lateral aspects of both legs (patient 1) and the anterolateral aspect of the left leg (patient 2). Type I partial syndactyly involving the second and the third toes in both patients was also present. The clinical and histopathologic features and diagnostic difficulties of cases of this disorder with minimal cutaneous and extracutaneous manifestations are discussed.- - - - - - - - - - ranking = 0.33333333333333keywords = long (Clic here for more details about this article) |
8/34. The duplicated longitudinal epiphysis or "kissing delta phalanx": evolution and variation in three different disorders.BACKGROUND: The delta phalanx, also known as the delta bone, or longitudinal epiphyseal bracket (LEB), has been described in a variety of syndromes and dysplasias. However, the "kissing delta phalanx" is not as well recognized in the literature; it consists of a duplicated longitudinal bracketed epiphysis, or a complex of two adjacent delta bones, with opposing convex portions facing each other. magnetic resonance imaging of the kissing delta phalanx has not been previously described. OBJECTIVE: To describe the evolution, variation and associated osseous anomalies of the kissing delta phalanx in three patients with distinct distal limb malformations using both plain films and magnetic resonance imaging. RESULTS: Patient 1 had rubinstein-taybi syndrome and, in addition to a kissing delta phalanx in both feet, had corresponding delta metatarsals (MT1). Patient 2 had Cenani-Lenz syndactyly with distinct variation of the kissing delta phalanx in each hand. He had a disorganized appearance to the phalanges, metacarpal fusions and carpal coalitions. Patient 3 had an isolated oligosyndactyly of the left hand with metacarpal fusions and carpal coalitions. All three patients were followed over time. We describe two types of kissing delta phalanges: separated (without fusion of the corresponding epiphyseal brackets) and nonseparated (with fusion of the corresponding epiphyseal brackets). Both types can be seen in the same patient and are a reflection of the relative degree of segmentation of the two delta bones. CONCLUSION: The appearance of this rare osseous abnormality changes with time and can be found in a limited number of uncommon disorders. It can also be found in association with other osseous anomalies of the distal extremities; therefore magnetic resonance imaging early in life can greatly assist in surgical planning. Recognition of the kissing delta phalanx may be an important radiological clue to diagnosis of these rare disorders.- - - - - - - - - - ranking = 2keywords = long (Clic here for more details about this article) |
9/34. Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome.We report a 5 9/12-year-old male with Cenani-Lenz syndactyly (CLS). He presented with three malformed digits on each hand and bilateral 2,3 partial cutaneous toe syndactyly. The expression of this presumed autosomal recessive disorder is variable and has been confused with split hand foot malformation (SHFM). Not all CLS patients show the typical 'spoon hand' configuration originally described. Affected CLS patients show a disorganized appearance of the phalanges with some degree of syndactyly/oligodactyly, in addition to metacarpal and carpal fusions. Radioulnar synostosis may be present. Cases lacking radioulnar synostosis may show proximal dislocation of the radial heads. The distal limb anomalies seen in our patient resemble other reported CLS patients. Radiographic evaluation showed a disorganized appearance of the phalanges, a 'kissing delta phalanx' of one proximal phalanx, metacarpal fusions, carpal coalitions and posterior subluxation of the radial heads. Clinical examination revealed features suggestive of Kabuki syndrome including large, prominent ears, sparse, medially flared and arched eyebrows, wide palpebral fissures, long eyelashes, and oligodontia with flat head 'screwdriver-shaped' incisors, in addition to persistent finger and thumb-tip pads. The faces of CLS patients are rarely shown or described. However, some patients in published reports have large, prominent ears. A recent report suggested midfacial dysmorphism in two patients with CLS (). Although the findings of CLS with features of Kabuki syndrome in our patient may be coincidental, the faces of CLS patients need to be carefully evaluated and described to determine if there is a distinctive accompanying facial phenotype.- - - - - - - - - - ranking = 0.33333333333333keywords = long (Clic here for more details about this article) |
10/34. Urogenital sinus, rectovaginal fistula, and an anterior stenosed anus--another cloacal variant.The persistent cloaca is one of the most complex and challenging developmental malformations. It is a rare anomaly occurring only in the female newborn and is represented by the association of urogenital sinus with an anorectal malformation (arm). Each case is probably unique. We report here one such case of cloaca with the VATER association-tracheoesophageal fistula (TOF) with a urogenital sinus, rectovaginal fistula, and an anteposed stenosed anus, along with preaxial syndactyly of the right hand. The spine, renal, and cardiac systems were normal. Interim management was directed towards repair of the TOF and a right transverse defunctioning colostomy. Despite thorough radioendoscopic preoperative investigations, the complexity of the cloacal anomaly was not delineated until surgery. This case is a rather rare combination of an intermediate form of the cloacal-arm spectrum. Such patients present with many diagnostic and therapeutic problems. Interval surgery should be directed towards decompression of the affected organ systems, and definitive surgery must be carefully planned and, whenever possible, done in a single stage with simultaneous multisystem repair to correct all significant malformations related to the cloacal complex.- - - - - - - - - - ranking = 0.33333333333333keywords = long (Clic here for more details about this article) |
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