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1/872. Deletion of 1q in a patient with acrofacial dysostosis.

    The Nager syndrome is the most common form of acrofacial dysostosis. Although autosomal dominant and recessive forms of acrofacial dysostosis have been described the molecular etiology of these disorders is unknown. We report on a child with acrofacial dysostosis, critical aortic stenosis, and a deletion of chromosome 1q involving the heterochromatic block and adjacent euchromatin. ( info)

2/872. Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism.

    A female fetus with brain malformations, multicystic kidneys, absence of the right thumb, and a posterior cleft of palate was delivered at 32 weeks of gestation. Cytogenetic studies including FISH showed a novel intrachromosomal triplication of the proximal long arm of chromosome 2 (q11.2-q21), resulting in tetrasomy for this segment. The middle repeat was inverted. At least 11 patients with intrachromosomal triplications have been reported, mostly involving chromosome 15q. The mechanism involved in formation of these rearrangements is compatible with U-type exchange events among three chromatids. ( info)

3/872. child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype.

    We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech, learning difficulties, and right fifth finger anomaly manifestations, consistent with velocardiofacial syndrome (VCFS); however, cytogenetic analysis demonstrated a small terminal deletion of the segment 4q34.2 to 4qter. Fluorescent in situ hybridization did not identify a deletion of the critical region associated with VCFS. In previously reported 4q deletions with a breakpoint distal to 4q34.2, no cardiac defects or cleft of palate were reported. Our patient has a deletion of 4q34.2 to 4qter and has palate and cardiac involvement and minor learning difficulties, which implies that genes involved in heart and palate development lie distal to 4q34.2, and that the critical region for more severe mental retardation on 4q may reside proximal to 4q34.2. These results suggest that a distal 4q deletion can lead to a phenotype similar to VCFS and emphasizes the importance of searching for other karyotype abnormalities when a VCFS-like phenotype is present and a 22q deletion is not identified. ( info)

4/872. Ontogeny of clenched-hand development in trisomy 18 fetuses: A serial transabdominal fetoscopic observation.

    Malpositioning of the fingers is a characteristic anomaly in fetuses with trisomy 18. The defect results in part from muscle variations along the radial margin of forearm and hand, absence of the thenar muscles, anomalous tendons and attachments among the forearm groups, and fusions among the arm flexor group. These variations result in radial or ulnar displacement of the tendons of extensor digitorum and digiti minimi, with overlapping of the fourth and fifth fingers radially and second finger in an ulnar direction. The ontogeny of these changes is unknown. We performed serial transabdominal thin-gauge fetoscopy in a patient with increased nuchal thickening at 12 weeks of pregnancy at the time of genetic testing and again at 14 weeks at the time of termination of pregnancy. Changes in the positioning of the fingers were not apparent at 12 weeks, but were evident at 14 weeks. The findings were beyond the resolution of ultrasound. We conclude that malpositioning of the fingers in trisomy 18 occurs some time between 12 and 14 weeks of gestation. Noninvasive confirmation of these findings may be possible with new and improved ultrasound imaging capabilities or perhaps with three-dimensional ultrasound. ( info)

5/872. Complex camptopolydactyly: an unusual hand malformation.

    Different types of polydactylies and other hand malformations are commonly seen. Here, we describe a very unusual type of hand malformation characterised by campto-polydactyly with totally disorganised configuration of digits. The role of possible genes involved in development of hands and digits is discussed. ( info)

6/872. Radial club hand with absence of the biceps muscle treated by centralisation of the ulna and triceps transfer. Report of two cases.

    Two children with radial club hand and absence of the biceps muscle were treated by centralisation of the ulna into the carpus and triceps transfer. The two operations were performed only a short time apart so that the period between the procedures could be used to stretch the triceps and to enable the children to adapt to an altered position of the wrist and to mobility of the elbow at one step and following a single period of plaster immobilisation. It is very likely that function is better than it would have been had the condition remained untreated. Before operation the children had only a crude hook function of the hand against the forearm and could not bring the hand to the mouth. Even if function is not much improved, the improvement in appearance is considerable and is by itself sufficient to justify the procedures. ( info)

7/872. Acrodysplasia, severe ossification abnormalities with short stature, and fibular hypoplasia.

    We present a girl with short stature, growth hormone neurosecretory dysfunction, severe hypoplastic/aplastic changes of the bones of the hands and feet with dysharmonic ossification, severely delayed bone age, microcrania, and fibular hypoplasia. Parental consanguinity suggests autosomal recessive inheritance. An additional three cases [Eiken et al., 1984: Eur J Pediatr 141: 231-235] sharing some of the radiographic manifestations of this patient have been reported. However, distinctive findings in the present case seem to outline a separate entity. ( info)

8/872. chondrodysplasia punctata stemming from maternal lupus erythematosus.

    The finding of stippled epiphyses on a neonatal radiograph generates a wide differential diagnosis, including genetic and teratogenic causes. We report the case of a male infant with stippled epiphyses evident on neonatal radiographs in whom a typical rash of lupus erythematosus developed. The skin abnormalities in the infant resulted in a diagnosis of systemic lupus erythematosus in his mother. Over a 3-year follow-up period, the child has demonstrated strikingly short stature, midface hypoplasia, anomalous digital development, slow resolution of the stippled epiphyses, and near normal cognitive development. The differential diagnosis of chondrodysplasia punctata and the literature supporting maternal lupus as one cause are reviewed. ( info)

9/872. Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?

    We report on concordantly affected female identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E. The most similar condition reported is the syndrome described by Fitzsimmons and Guilbert in uniovular twins characterized by progressive spastic paraplegia, dysarthria, brachydactyly type E, and cone-shaped epiphyses. During the last 11 years a report of only one other patient with this syndrome has been published; hence, its phenotypic delineation may be only partial. Although our patients might expand the phenotypic spectrum of this syndrome, they may represent a new disorder. ( info)

10/872. Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: overlapping manifestations of characteristic phenotypes.

    We report on a female infant with partial trisomy 9p (pter-->p13) and partial trisomy 14q (pter-->q22) resulting from a 3:1 segregation of a maternal reciprocal translocation (9;14)(p13;q22). Both trisomy 9p and partial trisomy 14q have been described as recognized phenotypes with characteristic patterns of anomalies. This patient appears to be the first reported with a partial duplication of both 9p and 14q resulting in an overlapping phenotype including minor facial anomalies, cleft palate, and hand-foot anomalies. However, the facial findings were more pronounced than commonly observed in cases with only one or the other duplicated chromosome regions, resulting in a distinctive appearance. ( info)
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