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1/33. Confirmation of arterial deficiencies in a limb with necrosis following clubfoot surgery.

    This study describes postoperative necrosis of the hallux and first ray in a child with clubfoot. Arteriography performed on this child's lower limbs demonstrated, in the operated leg, hypoplasia of both the anterior and posterior tibial arteries and failure of the dorsalis pedis artery to traverse the tarsus and complete the deep plantar arch. Previously, congenital vascular deficiency was suggested to predispose such operated limbs to necrosis. These findings confirm the association between vascular deficiency and necrosis. In this present study, the metabolic demands of wound healing were sufficient in a limb with vascular deficiency to cause localized distal hypoperfusion leading to cyanosis and necrosis of the hallux and medial foot.
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keywords = ray
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2/33. Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs.

    We describe two brothers with variable expression of a unique syndrome. One sib has postaxial polydactyly of the right hand and feet, two digits on the left hand (a thumb and first digit), bilateral ulnar ray dysgenesis, ectrodactyly of one hand, and ultrasonic evidence of cystic kidneys. His brother has postaxial polydactyly and small kidneys. The parents and a third sib are normal. They do not have the Pallister ulnar-mammary syndrome but may have an unusual form of the Weyers oligodactyly syndrome. This appears to be the first report of an acro-renal syndrome with ulnar dysgenesis, oligodactyly, polydactyly, and dysplastic kidneys.
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ranking = 5
keywords = ray
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3/33. Surgical treatment of the cleft foot.

    Between 1970 and 1997, we treated a total of 32 cleft feet in 21 patients (11 male and 10 female). We classified cases of cleft foot on the basis of the number of central ray deficiencies. Fourteen patients with 22 cleft feet were followed up for more than 1 year postoperatively (9 feet had no or one central ray deficiency, and 13 feet had two or three central ray deficiencies). The mean follow-up period was 8.8 years. The objective of this study was to evaluate the results of operative treatment of cleft foot. We evaluated the results of three methods: simple closure of the cleft, application of a double-pedicled flap, and insertion of a silicone block. Cosmetic complications, including widening of the foot, hypertrophic scarring, pigmentation of the grafted skin, and overlapping of the toes, were observed in patients with two or three central ray deficiencies. Few functional complications were observed: None of the patients experienced gait disturbances, although one patient complained of pain following walking. Roentgenography showed that the distance between the first and fifth metatarsals was 86 percent of that of the contralateral foot. When treating patients with no or one central ray deficiency, satisfactory results can be expected with simple closure of the cleft. However, in patients with two or three central ray deficiencies, it is difficult to obtain satisfactory results with simple closure of the cleft or application of a double-pedicled flap. Therefore, silicone block insertion to correct the defect is recommended when there is more than one central ray deficiency.
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keywords = ray
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4/33. Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases.

    Split hand and foot malformation syndrome (SHFM) is characterized by the absence of the central digital rays, deep median cleft, and syndactyly of the remaining digits. The majority of the familial cases are inherited in an autosomal dominant manner. Here we report on nine cases of SHFM in an inbred kindred. A variable intrafamilial expression of the malformation pattern is apparent. Autosomal recessive inheritance and a two-locus model are discussed.
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5/33. Malleolus externus plasty for joint reconstruction in fibular aplasia: preliminary report of a new technique.

    The instability of the upper and the lower ankle joint represents a serious problem in patients with fibular aplasia. None of the previous techniques demonstrated at least sufficient results. In this report we present a new technique of malleolus externus plasty applied in a 5 1/2-year-old boy with fibular aplasia (type II according to Coventry and Johnson or type Ib according to Achtermann and Kalamchi) with a 6 cm length deficiency of the lower leg and 1 cm of the upper leg. Furthermore, he showed a tibial antecurvation deformity of 20 degrees, a fourth ray foot with adduction deformity of the hindfoot, cutane syndactyly D 2-4, and a hallux varus. This new technique works on the following principle. A triangular iliac crest transplant is implanted with an apophysis and the annexing fascia glutealis, including the osseous part of the transplant, in the lateral distal tibia in a way that the growing apophyseal part lays distally covering the lateral talus. Gluteal fascia annexed to the apophysis was used for the reconstruction of a lateral tendon. Using a ring fixator the transplant is fixed and coincidentally the lower leg lengthened and the axis corrected. The axis deformity and the leg-length deficiency of 7 cm were equalized. The fixator could be removed after 6 months. Radiologically, an entire integration of the iliac crest transplant was found. magnetic resonance imaging showed it had sufficient circulation. The reexamination 2.5 years later demonstrated a simultaneous growth of the malleolus externus and the distal tibia and stable ankle joints with sufficient mobility and full weight-bearing capability. For support of the foot the boy uses ready-made shoes with curved arch supports. In conclusion, using this new technique an individually adapted lateral malleolus with growth-potential can be constructed that stabilizes the foot and the ankle joints. Thus, reluxations of the foot specifically in relation to lengthening of lower legs can be avoided with concurrent preservation of the range of movement of the ankle joint.
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6/33. Pedal ectrodactyly: a case report with a new surgical management.

    A case report is presented regarding a patient with type IV bilateral ectrodactyly treated with a double surgical approach: in forefoot to correct the malformation and in rearfoot to prevent secondary deformity of the subtalar joint. The forefoot was enlarged and in particular the second and third rays were absent. There was also a metatarsus primus varus with interphalangeal hallux abductus. The second cuneiform bone was removed with a wedge resection of the midfoot. The reduction in transverse diameter of the forefoot was obtained by cerclage of the first and fourth metatarsal bones. For hallux valgus, a percutaneous distal osteotomy of the proximal phalanx was performed. Several months after the forefoot correction, subtalar joint pronation was noted secondary to the altered forefoot mechanics and was treated with a subtalar Arthroereisis. The contralateral foot was addressed using similar techniques, except all procedures were done in a single surgical session. A favorable outcome for the patient 1 year and 6 months after surgery seems to justify this approach.
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7/33. Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome?

    This paper presents a patient with the following malformations: split hand and split foot on the left side, a hypoplastic fifth ray of the right hand and a hypoplastic first ray of the right foot with a small cleft between the first and second ray; eye abnormalities which consist of a complete iris coloboma of the left eye in an atypical position (cranio-temporal) and a coloboma of the choroid in the right eye; a glandular hypospadias and terato-zoospermia. Since split hand/split foot can be caused by mutations in the p63 gene, mutation analysis of this gene was performed. However, sequencing analysis did not reveal a mutation. This malformation complex may represent a new syndrome.
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ranking = 3
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8/33. Multiple osseous tarsal coalitions: a case report and review of the literature.

    A patient with multiple tarsal coalitions presenting with symptoms at the age of 47 years is reported. The report highlights the presentation of symptomatic coalitions following trauma in adulthood. Coalitions can pose difficulties in diagnosis, particularly without previous history of pain or disability in childhood. A decrease or loss of subtalar movement, painful movement, and valgus deformity of the hindfoot are usually present in the adult patient but are not often pathognomonic and present a diagnostic conundrum, particularly with x-rays being misinterpreted. This report highlights the problem of diagnosing such a condition with the attendant difficulties in formulating treatment.
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ranking = 1.0000303264126
keywords = ray, x-ray
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9/33. The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype.

    In this communication we describe the clinical and molecular genetic findings in a family with a variable ectrodactyly linked to SHFM3. This is only the second detailed report of the clinical features of the SHFM3 linked syndrome in a large pedigree. Within this family the expressivity of the condition ranges from the classical ectrodactyly deformity to partial absence of the thumb and agenesis of the distal tip of the index finger. There is discordant limb severity, with the feet more severely affected than the hands. Two individuals have a nail dysplasia indicating the presence of a minor ectodermal component. A cleft palate was present in one individual. Radiological features of family members include short metacarpals with rounded proximal heads, agenesis of the radial ray, epiphysial coning, and an unusual supernumerary ossicle opposed to the distal phalanx of the left thumb. Genetic mapping studies in this family exclude p63 involvement and demonstrate that ectrodactyly in this pedigree is linked to the SHFM3 region on chromosome 10q24. A meiotic recombination event enabled exclusion of a maximum of 1.9 Mb of dna from the previously known critical region thereby narrowing the critical interval to between D10S1265 and D10S222, with the minimal critical region being between D10S1240 and D10S1267. Further investigations are in progress to identify the gene within the SHFM3 critical region responsible for ectrodactyly.
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ranking = 1
keywords = ray
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10/33. Probable new syndrome in a Mexican family with congenital palmar polyonychia and postaxial limb defects.

    Congenital palmar polyonychia (CPP) is a rare and usually sporadic birth defect. We report on a Mexican girl with CPP of both 5th fingers and her sister with ectrodactyly with ulnar ray deficits and agenesis of the ulna. In previous reports, CPP has been seen in ectrodactyly with involvement of the ulna and ulnar digital rays and with postaxial polydactyly. Such findings observed in our patients can be considered a form of CPP. Autosomal dominant inheritance of CPP is more likely based in previous informative families with vertical transmission and instances of male-to-male transmission. The present and two previous families with affected sibs only may represent parental gonadal mosaicism, whereas de novo mutation or incomplete evaluation of relatives could be an explanation for sporadic cases. Variable expression of the CPP phenotype may be a new autosomal dominant entity, i.e., a CPP-postaxial limb defect syndrome.
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ranking = 2
keywords = ray
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