Ectrodactyly is a developmental defect of the distal limbs characterized by marked clinical variability and genetic heterogeneity, also reflected in the observation of different chromosome abnormalities non randomly associated with longitudinal postaxial limb deficiencies. The one most frequently found in patients with split hand-split foot (SHSF) involves chromosome band 7q22. Recently, structural anomalies of chromosome 6q21 have been reported in 2 unrelated patients with SHSF, suggesting that this region may also contain genes responsible for limb development [Braverman et al., 1993. Am J Hum Genet, suppl 53: 410; Viljoen and Smart, 1993. Clin Dysmorph 2: 274-277]. We report on a third patient who had a de novo, apparently balanced t(6;7)(q21;q31.2) translocation and bilateral ulnar aplasia with postaxial oligodactyly. In spite of the different phenotypic effects observed in these 3 patients, we consider our case as further evidence that genes in 6q21 may play a role in distal limb development.
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http://dx.doi.org/10.1002/ajmg.1320550314 | DOI Listing |
Dev Med Child Neurol
January 2025
Queensland Cerebral Palsy and Rehabilitation Research Centre, Child Health Research Centre, Faculty of Medicine, The University of Queensland, Brisbane, Australia.
Aim: To identify developmental trajectories of impaired hand function in infants aged 3 to 15 months with unilateral cerebral palsy (CP).
Method: Sixty-three infants (37 male; median gestational age 37 weeks [interquartile range 30-39.1 weeks]) recruited as part of a randomized trial with a confirmed diagnosis of unilateral CP were included.
J Orthop Traumatol
January 2025
Department of Orthopaedic Trauma, Hong Hui Hospital, Xi'an Jiaotong University School of Medicine, Xi'an, 710054, Shaanxi, China.
Background: Clavicle fractures associated with ipsilateral coracoid process fractures are very rare, with limited literature reporting only a few cases. This study reports on 27 patients with ipsilateral concomitant fractures of the clavicle and coracoid process who were followed for more than 12 months.
Material And Methods: This retrospective study reviewed the charts of skeletally mature patients with traumatic ipsilateral clavicle and coracoid process fractures treated at the authors' institution.
Purpose: Previous studies have shown that subtrochanteric femoral fractures treated with intramedullary nails might lead to varus-procurvatum malalignment. Similar results have been reported when using antegrade intramedullary lengthening nails (ILNs). The purpose of our study is to examine if antegrade telescoping intramedullary lengthening nails lead to varus-procurvatum malalignment of the proximal femur and what are possible predictors of that shift.
View Article and Find Full Text PDFClin Genet
January 2025
Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.
Split-hand/foot malformation syndrome (SHFM) is a congenital limb malformation that is both clinically and genetically heterogeneous. Variants in WNT10B are known to cause an autosomal recessive form of SHFM. Here, we report a patient born to unrelated parents who was found to be a compound heterozygote for missense variants in WNT10B: c.
View Article and Find Full Text PDFJ Transl Med
January 2025
Department of Physical Therapy, University of Kentucky, 900 S Limestone, Lexington, KY, 40536-0284, USA.
Background: Emerging evidence suggests that there are morphological and physiological changes to the vastus lateralis after an anterior cruciate ligament (ACL) tear. However, it is unclear whether these alterations are limited to just the vastus lateralis or are more representative of widespread changes across the thigh musculature and/or if these changes precede reconstruction. The purpose of this study was to determine T1ρ relaxation time, a measure of extracellular matrix organization in muscle, and physiological cross-sectional area (PCSA) for muscles of the quadriceps and hamstrings of the ACL-deficient and contralateral limbs soon after ACL injury.
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