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Results for “Hand Deformities”

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At least 919 records · Page 51Linked to original sources
PubMed1996

Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22.

The t(11;22) (q23;q11) translocation is the most frequently identified familial reciprocal translocation in humans. In translocation carriers, 3:1 meiotic segregation with tertiary trisomy can occur resulting in abnormal progeny with the der(22) as the supernumary chromosome. Affected children have a distinct phenotype with multiple anomalies and severe mental retardation. We have identified a child with developmental delay and multiple anomalies consistent with the der(22) phenotype. Cytogenetic analysis showed an abnormal chromosome complement of 47,XX,+der(22)t(11;22)(q23; q11) in all 50 cells analysed. FISH analysis using chromosome 11 and 22 painting probes showed a pattern consistent with a reciprocal translocation of the distal bands 11q23 and 22q11 respectively. Parental karyotypes were normal. RFLP analysis of locus D22S43, which maps above the t(11;22) breakpoint, showed that the der(22) was paternal in origin and indicated that the normal chromosomes 22 were the probable result of maternal heterodisomy. RFLP analysis of locus D22S94, which maps below the t(11;22) breakpoint, also suggested that both normal chromosomes 22 of the child represented the two maternal homologues. Non-paternity was excluded through the analysis of 10 microsatellite markers distributed on 10 different chromosomes and three VNTRs on three different chromosomes. To the best of our knowledge, this is the first reported case of a patient with an abnormal karyotype resulting from a de novo translocation in the paternal germline with probable unbalanced adjacent 1 segregation and maternal non-disjunction of chromosome 22 in meiosis I.

Abnormalities, Multiple↗
PubMed1996

Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.

Split hand/split foot malformation (SHSF) has been described in several patients associated with cytogenetically visible rearrangements involving chromosome 7q. Characterisation of these patients has led to localisation of an autosomal dominant form of SHSF to 7q21-22; the locus has been designated SHFM1. We describe a patient with a complex, apparently balanced cytogenetic rearrangement, including a translocation breakpoint at 7q21.3 near the DSS1 gene. In addition to ectrodactyly of all four limbs, the patient has congenital deafness, submucous cleft palate, microcephaly, and mental retardation. This patient represents an additional case of syndromic ectrodactyly related to the SHFM1 gene region, which may be responsible for both syndromic and non-syndromic ectrodactyly.

Abnormalities, Multiple↗
PubMed1997

Unusual traits associated with Robinow syndrome.

We report on some members of two unrelated families showing the characteristic features of Robinow syndrome. In a consanguineous Kuwaiti family, the index case with Robinow syndrome showed some unusual features including severe IUGR, laxity of ligaments, hyperextensible joints, redundant skin folds, severe normocytic anaemia, repeated infection, increased percentage of total T cells and CD4 positive population, reduced percentage of CD8 positive cells, and EMG abnormality. In a Pakistani family with a high degree of multigenerational consanguinity, a single case with the Robinow phenotype also had congenital heart disease, mainly involving the right side of the heart, with pulmonary stenosis, tricuspid atresia, ASD, VSD, double outlet right ventricle, and right atrial isomerism. This report suggests that the disease profile of Robinow syndrome may be extended to accommodate the unusual traits mentioned above. The association of the Robinow phenotype with congenital heart disease in case 2 of this report is consistent with the previously reported finding that congenital heart disease, particularly involving the right side of the heart, may be a prominent component of Robinow syndrome in a subset of patients.

Abnormalities, Multiple↗
PubMed1998

Mosaicism for a tandem duplication dup(1)(q12q22) in an 18 year old female.

The clinical features and cytogenetic results of an 18 year old mentally handicapped female found to be a mosaic for a tandem duplication of chromosome 1 (46,XX,dup(1)(q12q22)/46,XX) are reported. The case is compared with the three previously described cases and possible mechanisms for the origin of the duplication are discussed. This patient was not found to have features of Proteus syndrome which was previously reported in a subject mosaic for a tandem duplication involving chromosome (1)(q11q25).

Adolescent↗
PubMed1998

Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.

Apert syndrome, characterised by craniosynostosis, craniofacial anomalies, and symmetrical syndactyly of the digits (cutaneous and bony fusion), has been associated with two canonical mutations in the FGFR2 gene (S252W, P253R) in the great majority of cases. Since these two alterations have been observed exclusively among these patients, it has been suggested that the S252W and P253R changes may play an important role in the occurrence of syndactyly. In order to verify whether the mutations S252W and P253R could also cause a milder phenotype, without involvement of the limbs, we have screened 22 patients with clinical characteristics compatible with Crouzon or Pfeiffer syndrome for these two particular changes. Surprisingly, we identified a Pfeiffer-like patient with the mutation S252W, and therefore we have shown for the first time the occurrence of one of the canonical Apert mutations without severe abnormalities of the upper and lower extremities.

Acrocephalosyndactylia↗
PubMed1974

Sjögren-Larsson syndrome in two sibs with peripheral nerve involvement and bisalbuminaemia.

Two sibs are described with Sjögren-Larsson syndrome. Another sib died in early life with signs which appear to be indicative of the same condition. In the two cases studied we have documented signs of peripheral nerve involvement (not previously reported in the literature) which point towards a pathological process acting on ectodermal structures to a greater extent than has previously been considered.

Adolescent↗
PubMed1969

Trisomy 13-15.

Explore the source record for details and available documents.

Child, Preschool↗
PubMed1994

Cutaneous amputation of the terminal phalanges in syringomyelia.

We describe a 30-year-old woman with syringomyelia, who developed recurrent painless whitlows of the left hand that led to amputation of the terminal phalanx of the 4th finger and considerable shortening of the terminal phalanges of the 1st, 2nd, 3rd and 5th fingers. A roentgenogram of the left hand showed a complete resorption of the terminal phalanges of the 3rd, 4th and 5th fingers and partial resorption of the terminal phalanx of the 2nd finger. Although the defective sensory function undoubtedly contributes to the development of bone resorption by facilitating mechanical repetitive injuries and infections, impaired vasomotor function possibly plays an equally important role.

Adult↗
PubMed1994

Diabetic scleredema and scleroderma-like changes in a patient with maturity onset type diabetes of young people.

A 21-year-old housewife with maturity onset type diabetes of young people developed scleredema diabeticorum, scleroderma-like skin thickness on forearms and dorsum of hands, digital sclerosis and cheiroarthropathy. She had diabetes mellitus since the age of 11 years. Her grandfather on the mother's side, her mother and 3 of 5 her mother's brothers and sisters have diabetes mellitus. Blood glucose was 295 mg/dl. Urinary glucose was 5.3 g/day. Nail fold capillary microscopy revealed a progressive systemic sclerosis pattern. Histologically, hematoxylin and eosin sections from back and forearm skin demonstrated broad collagen bundles separated by widened clear spaces throughout the thickened dermis.

Adult↗