Cases reported "Synostosis"

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1/7. Unilateral longitudinal radial ray deficiency of the hand and metacarpal 4-5 synostosis.

    We report 3 non related patients with severe hypoplasia/aplasia of the thumb with an ipsilateral synostosis of the fourth and fifth metacarpals. A review of few reports on this unusual association is presented and the possible pathogenetic mechanism is discussed.
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ranking = 1
keywords = ray
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2/7. Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?

    We describe a multiple congenital anomalies (MCA) syndrome dominantly transmitted through three generations. Radial ray abnormalities with wide variability of expression were observed in four female patients. Moreover, a 14-week-gestation male fetus had severe radial ray malformation, anencephaly, unilateral renal agenesis, and a common dorsal mesentery. Results of high-resolution karyotyping were normal in the malformed fetus and his affected mother. Furthermore, several spontaneous abortions of male fetuses had occurred in this pedigree. To our knowledge, a similar association has not been described previously. It could represent a new X-linked dominant MCA syndrome, or an autosomal dominant condition with severe expression limited to males.
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ranking = 1.5
keywords = ray
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3/7. Humeroradial synostosis and the multiple synostosis syndrome: case report.

    Humeroradial synostosis may occur sporadically or as an extremely rare inheritable disorder. The current classification divides cases into class I (fixed in extension with ulnar ray hypoplasia) or class II (fixed in flexion without hypoplasia). Familial cases of class II synostosis segregate into autosomal recessive and autosomal dominant groups. Autosomal recessive pedigrees are heterogeneous. However, when inherited as an autosomal dominant some cases of humeroradial synostosis demonstrate striking similarities limited to the musculoskeletal system: class II humeroradial synostosis, proximal symphalangism, short first metacarpal and metatarsal bones, carpal and tarsal coalitions and a prominent nasal bridge. We believe that when class II humeroradial synostosis is associated with these features, the primary diagnosis is the multiple synostosis syndrome. Furthermore, a prominent nasal bridge is present in the neonate and may aid diagnosis at this stage. We illustrate these findings with the case of a mother and only child, both demonstrating class II humeroradial synostosis and features characteristic of the multiple synostosis syndrome.
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ranking = 0.25
keywords = ray
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4/7. 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 = 0.25025551514574
keywords = ray, x-ray
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5/7. Congenital fusion of the maxilla and mandible.

    Congenital fusion of the maxilla and mandible (syngnathia) is rare and can present in a wide range of severity from single mucosal bands (synechiae) to complete bony fusion (synostosis). Congenital synostosis of the mandible and maxilla is even less common than synechiae, with only 25 cases reported in the literature. Most of them presented as an incomplete, unilateral fusion. A 4-year-old boy was referred to the authors' emergency unit with asphyxia after vomiting. The authors found the child could not open his mouth. His upper and lower jaws were fused, with only a 2- to 3-mm gap in the anterior part. x-rays and computed tomography scans showed that there was a bony fusion of the ramus of the mandible to the zygomatic complex and the posterior part of the maxilla. In addition, there was significant mandible hypoplasia. After performing an osteotomy (to treat the fusion between the bilateral ramus mandible, maxilla, and zygoma), the authors performed a temporomandibular joint reconstruction using a silicon block. After the completion of these procedures, they observed that the mouth could be opened 32 mm. After 2 years of mandibular lengthening performed with an external distracter, the patient's facial appearance and occlusion became more acceptable. An extremely rare case is described, and the existing literature is reviewed.
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ranking = 0.25
keywords = ray
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6/7. Illusional tarsometatarsal synostosis.

    Two cases are reviewed which presented findings strongly suggesting congenital synostosis between the third metatarsal and third cuneiform bones. Supplementary x-ray films proved these joints to be present and intact. This point, though well known to skeletal radiologists, is worthy of emphasis to nonskeletal radiologists and other physicians.
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ranking = 0.25025551514574
keywords = ray, x-ray
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7/7. Treatment of traumatic radioulnar synostosis by excision and postoperative low-dose irradiation.

    Post-traumatic radioulnar synostosis can have a profound effect on upper extremity function. Prior reports of excision, with and without interposition material, have demonstrated frequent recurrence and disappointing results. Based on a favorable experience with radiation prophylaxis of heterotopic ossification following total hip arthroplasty, this modality has been used in the management of post-traumatic forearm synostosis. Four cases using excision of bony synostosis followed by single-fraction, low-dose (800 cGy), limited-field irradiation are presented. With a follow-up period of 1-4 years after excision and irradiation, all four patients had total arcs of forearm rotation between 115 degrees and 120 degrees. Each patient noted sustained functional improvement, and there was no x-ray film evidence of recurrent synostosis formation. Single fraction irradiation did not require ongoing patient compliance nor did it complicate rehabilitative efforts. Furthermore, soft tissue and bony healing were not impaired.
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ranking = 0.25025551514574
keywords = ray, x-ray
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