Cases reported "Syndactyly"

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1/15. 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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2/15. Intercalary non-vascularised toe phalanx transplantation for short finger-type symbrachydactyly.

    A two-year-old boy with short finger-type symbrachydactyly involving the index, middle, and ring fingers was treated with intercalary nonvascularised toe phalanx transplantation into the middle finger to obtain stability of the middle finger before syndactyly release. He underwent syndactyly release one year after the transplantation. Two years after the transplantation, the clinical result was satisfactory, although X-ray showed fibrous union between the transplanted phalanx and the host phalanx. Intercalary nonvascularised toe phalanx transplantation is one of the way of stabilising a finger after syndactyly release.
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3/15. Usefulness of a palmar crease template for the treatment of complicated syndactyly.

    The treatment of complicated syndactyly has been a difficult problem because it involves not only cutaneous syndactyly but also abnormal arrangement of the finger rays. This means that this anomaly is characterized by abnormal patterns of the palmar creases. The authors prepared a template for tracing the proximal, middle, and distal palmar creases of the nonaffected hand on a clear film and used it as a mirror image to create the preoperative design, to measure the distance between the fingers, and to estimate the location and size of the skin graft intraoperatively. The authors think that the recreation of the normal palmar crease pattern in the affected hand can lead to normal arrangement of the fingers and it is very useful for the reconstruction of multiple finger webbing as part of the treatment of complicated syndactyly.
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4/15. 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.
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5/15. Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.

    The Apert syndrome is characterized by craniosynostosis and syndactyly of hands and feet. Although most cases are sporadic, an autosomal dominant mode of inheritance is well documented. Two mutations in the FGFR2 gene (Ser252Trp and Pro253Arg) account for most of the cases. We report a patient with a rare form of Apert syndrome with polydactyly. The proposita has turribrachycephaly. complete syndactyly of 2nd to 5th digits ("mitten hands" and cutaneous fusion of all toes). The x-rays revealed craniosynostosis of the coronal suture and preaxial polydactyly of hands and feet with distal bony fusion. Molecular analysis found a C755G transversion (Ser252Trp) in the FGFR2 gene. Only eight patients with Apert syndrome and preaxial polydactyly have been reported and this is the first case in which molecular diagnosis is available. On the basis of the molecular findings in this patient, polydactyly should be considered part of the spectrum of abnormalities in the Apert syndrome. This assertion would establish the need for a new molecular classification of the acrocephalopolysyndactylies.
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6/15. Further delineation of the acrocallosal syndrome.

    The acrocallosal syndrome (ACS) was recognized by Schinzel in 1979 as a specific entity, characterized by the association of craniofacial anomalies, total or partial agenesis of corpus callosum, polysyndactyly and mental retardation. The inheritance is autosomal recessive, based on instances of recurrence in siblings and cousins and parental consanguinity. A large inbred kindred with recurrent ACS is presented. This family further strengthens the hypothesis of autosomal recessive inheritance for this syndrome. The array of clinical manifestations in this sibship and those previously reported exemplify the phenomenon of inter- and intrafamilial variability that must be considered when defining ACS. Based on a review of published reports and the present family, essential, additional and occasional findings are distinguished. attention is drawn to geographical clustering of the families.
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7/15. Infantile convulsions: transient infantile hypocalcemia associated with skeletal deformities.

    An infant with skeletal deformities and hypocalcemic convulsions is described. The convulsions, which were first noted in the 5th week of life, as well as the low serum calcium level were transient. The skeletal deformities consited of deformation of the terminal phalanges of the right third finger and right second toe, syndactyly of the third and fourth finger of both hands and left pes equinovarus. X-ray examination revealed abnormal shape and structure of some bones of the hands. The most likely diagnosis is transient congenital idiopathic hypoparathyroidism, which has not yet been described in association with congenital skeletal anomalies.
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8/15. Congenital onychodysplasia of the index fingers.

    Twenty-two fingers of 13 patients had dysplastic nails. Four types of congenital onychodysplasia of the index fingers such as anonychia, rudimentary, split rudimentary (polyonychia), and micronychia were found in five, three, eight, and six fingers, respectively. Narrowing at the distal end of the affected distal phalanx (lack of the cresent-shaped cap), and a Y-shaped bony projection were characteristic features seen on x-ray films. There were no associated ectodermal abnormalities. syndactyly was a relatively common associated hand anomaly. Some cases of congenital onychodysplasia of the index fingers were inherited. These findings suggest that impediments to the membranous ossification center can lead to a dysplastic crescent-shaped cap with nail anomalies.
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ranking = 0.16689811710073
keywords = ray, x-ray
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9/15. Cleft hand without absence of a finger.

    Cleft hand implies a central longitudinal defect. In this paper, six cases of cleft hand with a normal number of digits are reported. Such clefts are less severe than those in which fingers are missing. In our cases, associated anomalies of the upper extremities were cutaneous syndactyly and a more severe cleft hand with an absent finger. Those of the lower extremities were polydactyly, syndactyly, and cleft foot. The clinical features of cleft hand with a normal digital count were similar to those with a missing finger. It is supposed that the teratogenic mechanism of such cleft hands are the same that is the failure of separation of finger rays. Cone shaped cleft of the hand is one of the phenotypes of the anomaly caused by the failure of differentiation of finger rays.
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10/15. Greig cephalopolysyndactyly syndrome. Report of a sporadic case.

    A female newborn of healthy parents demonstrates the combination of postaxial hexadactyly type B of the hands (X-ray investigations show in addition duplicated terminal phalanges of the thumbs), preaxial hexadactyly of the toes, partial and total syndactyly of the fingers and toes. These findings are compatible with the diagnosis of Greig cephalopolysyndactyly syndrome. Dyscrania can not be demonstrated. In addition, our patient exhibits genu recurvatum on the left side resulting from intrauterine deformation. Sonography of the head reveals normal formation of the corpus callosum. The neurological status of our baby is inconspicious, and the psychomotor development up to the age of 2 5/12 years normal. The differential diagnosis of this characteristic combination of pre- and postaxial polydactyly has to consider the acrocallosal syndrome. In sporadic cases of Greig cephalopolysyndactyly syndrome it is important to investigate and follow the neurological status of the patients and in particular to use sonography to document the intact corpus callosum. patients with Greig cephalopolysyndactyly syndrome have a normal development, children with the acrocallosal syndrome are retarded.
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