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7 results
  • Non-syndromic bilateral ulnar aplasia with humero-radial synostosis and oligo-ectro-dactyly. [Case Reports]
    Am J Med Genet A 2018; 176(5):1180-1183McVeigh TP, Soye JA, … Lynch SA
  • Congenital anomalies of the upper limbs are rare and etiologically heterogeneous. Herein, we report a male infant with non-syndromic bilateral Type Vb ulnar longitudinal dysplasia with radiohumeral synostosis (apparent humeral bifurcation), and bilateral oligo-ectro-syndactyly who was born following an uncomplicated pregnancy, with no maternal use of prescription or illicit medication. Array CGH …
  • Developmental phase specificity and dose-response effects of 2-methoxyethanol in rats. [Journal Article]
    Fundam Appl Toxicol 1996; 29(1):131-9Sleet RB, Welsch F, … Marr MC
  • Methoxyethanol (ME) produces embryotoxic effects in rodents, rabbits, and nonhuman primates. Mechanistic evaluations of ME dysmorphogenesis have focused mainly on developmental insults and chemical disposition in the mouse. These assessments in mice were based on developmental phase specificity (DPS) and dose-response relationship (DRR) of ME. DPS and DRR indicated treatments for selectively indu…
  • Ectro-amelia syndrome associated with an interstitial deletion of 7q. [Case Reports]
    Am J Med Genet 1990; 35(1):95-9Morey MA, Higgins RR
  • We describe a premature male infant with an interstitial deletion of 7q [46,XY,del(7) (pter----q21.3::q31.3----qter]. Manifestations include absence of lower limbs, unilateral ectrodactyly, facial anomalies, gingival hyperplasia, feeding problems, and atrial septal defect. Chromosome 7 deletions of the q21.3----q31.3 region are reviewed with emphasis on limb anomalies.
  • Triphalangeal thumb and brachy-ectrodactyly syndrome. Confirmation of autosomal dominant inheritance. [Case Reports]
    Clin Genet 1987; 31(1):13-8Silengo MC, Biagioli M, … Franceschini P
  • Two patients with triphalangeal thumbs-ectrodactyly syndrome are described. The first case is a 4-year-old female with triphalangeal thumbs, preaxial polydactyly with rudimentary polydactyly of the 3rd finger of the right hand and ectro-syndactyly of feet. Her stillborn sister had triphalangeal thumbs and ectrodactyly of feet. The mother has triphalangeal thumbs, brachy-syndactyly of the left foo…
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