Cases reported "Syndactyly"

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1/182. sturge-weber syndrome with bilateral congenital syndactyly: a previously undescribed association.

    The sturge-weber syndrome consists of unilateral port-wine haemangioma of the face which may be associated with an ipsilateral intracranial haemangioma and choroidal angioma. The common derivation of the meningeal, choroidal and facial vessels may explain a congenital malformation of all three areas. I report the case of a child with typical sturge-weber syndrome who had a previously undescribed association with bilateral congenital syndactyly.
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ranking = 1
keywords = congenita
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2/182. Mutchinick syndrome in a Japanese girl.

    We report on a 7-year-old Japanese girl with Mutchinick syndrome, a rare congenital malformation syndrome described in a pair of Argentinean sisters and a pair of German brothers; both originating from the same geographic region in the former East prussia. The girl we describe had most of the clinical manifestations of the syndrome, including growth and developmental retardation, and craniofacial anomalies with microcephaly, hypertelorism, a broad straight nose, low-set malformed ears, and a wide, tented mouth. She also had the following hitherto undescribed manifestations: ventricular septal defect, palmoplantar hyperkeratosis, bilateral partial soft-tissue syndactyly of second and third toes, and megaloureters. The occurrence of the syndrome in a Japanese girl indicates that the syndrome is not restricted to the descendants of individuals from a confined region in northeastern europe.
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ranking = 0.17628431619033
keywords = congenita, defect
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3/182. The wide spectrum of clinical expression in Adams-Oliver syndrome: a report of two cases.

    Two children are described with the combination of aplasia cutis congenita (ACC) and transverse limb defects known as Adams-Oliver syndrome. Whereas in the first child the typical features of ACC, syndactyly and transverse nail dystrophy were only mildly expressed and associated defects of the central nervous system and cardiac malformations were absent, the second child suffered from a very severe expression of the syndrome, with a combination of ACC, syndactyly, cutis marmorata telangiectatica congenita and multiple cardiac and central nervous system malformations which resulted in fatal central respiratory insufficiency.
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ranking = 25.564391986311
keywords = aplasia cutis congenita, cutis congenita, aplasia cutis, congenita, aplasia, cutis, defect
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4/182. anterior chamber eye anomalies, redundant skin and syndactyly--a new syndrome associated with breakpoints at 2q37.2 and 7q36.3.

    We report a 34-year-old female with a de novo balanced reciprocal translocation involving 2q37.2 and 7q36.3. She has a unique combination of multiple congenital malformations that include redundant skin, complete tissue syndactyly of the hands and feet, hirsutism, polycystic ovaries and bilateral anterior chamber eye anomalies. Her son has inherited the unbalanced product (46,XY,der(2) t(2;7)(q37.2;q36.3). He has a similar clinical picture with additional features including complex congenital heart disease, post axial polydactyly, hypotonia and global developmental delay. The breakpoints may indicate the location of the gene(s) responsible for this unique combination of features.
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ranking = 0.33333333333333
keywords = congenita
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5/182. Unilateral tibial aplasia, pre-axial polysyndactyly, vertebral anomalies and imperforate anus.

    Tibial hemimelia is a rare malformation that can be isolated or found with other skeletal abnormalities. We describe a fetus with unilateral tibial aplasia, ipsilateral pre-axial polysyndactyly and femoral hypoplasia, ventriculomegaly, anal atresia and rib and vertebral anomalies. We believe that this combination of malformations has not previously been described.
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ranking = 0.60459873873427
keywords = aplasia
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6/182. A girl with ectodermal dysplasia, choanal atresia and polysyndactyly.

    We present a 3-year-old child with clinical features of ectodermal dysplasia comprising sparse hair, dystrophic and ridged nails and bilateral obstruction of the nasolacrimal ducts. Additional findings were unilateral choanal atresia, bilateral syndactyly of the feet and polydactyly. We discuss the differential diagnosis of these clinical findings.
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ranking = 1113.1316098749
keywords = ectodermal dysplasia, dysplasia
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7/182. Hypospadiac or intact foreskin graft for syndactyly repair.

    BACKGROUND/PURPOSE: syndactyly is one of the most common malformations of the hands and feet. Repair may necessitate the use of a full-thickness skin graft. The prepuce is an excellent choice for grafting because of its lack of hair, elasticity, and degree of thickness. The authors report 4 cases of syndactyly repair using foreskin for grafting. methods: The authors reviewed 4 cases of syndactyly repaired at Children's Hospital, where foreskin was used for grafting. There was one congenital band syndrome and 3 cases of simple syndactyly. Three patients had a normal prepuce and underwent simultaneous circumcision. One patient presented with coronal hypospadias and underwent simultaneous meatal advancement and glanuloplasty. RESULTS: All patients experienced a satisfactory outcome with no graft loss and no complications. No grafts showed hair, and 3 grafts showed slight relative hyperpigmentation. Excess foreskin was available in all cases of simple syndactyly. Concominant hypospadias repair did not increase the morbidity of the surgery. CONCLUSION: The intact or hypospadiac foreskin is an excellent choice for a free graft in syndactyly repair when available.
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ranking = 0.16666666666667
keywords = congenita
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8/182. Laurin-Sandrow syndrome--a surgical challenge.

    We describe the sixth reported case of Laurin-Sandrow syndrome. This spectrum of congenital abnormalities includes complex syndactyly, often associated with ulnar duplication, mirror feet and columella deformities. We discuss Laurin-Sandrow syndrome and report on its surgical management.
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ranking = 0.16666666666667
keywords = congenita
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9/182. Feingold syndrome--a cause of profound deafness.

    A case of Feingold syndrome is presented with a previously undescribed association of bilateral profound hearing impairment. Computed tomography (CT) scanning revealed severe narrowing of the internal auditory meatuses at the peripheral end with non-existent auditory nerves. This pathology is significant in the future habilitation of the child, as cochlear implantation is not possible. Children with multiple congenital anomalies should have radiological investigations before hopes are raised with respect to cochlear implantation.
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ranking = 0.16666666666667
keywords = congenita
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10/182. 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 = 0.83333333333333
keywords = congenita
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