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  • Title: Upper limb amelia, facial clefts, holoprosencephaly, and interrupted aortic arch.
    Author: Zimpfer A, Miny P, Dombrowski U, Tolnay M, Meyer P, Bruder E.
    Journal: Fetal Pediatr Pathol; 2007; 26(4):169-76. PubMed ID: 18075831.
    Abstract:
    The combination of bilateral brachial amelia, facial clefting, and holoprosencephaly is rare. To our knowledge, only 4 patients with this combination of malformations have been described so far. We report on a male fetus with bilateral brachial amelia, complex facial clefts, frontal craniosynostosis and hypoplasia, thoracic kyphoscoliosis, and holoprosencephaly. In addition, an interrupted aortic arch, a muscular ventricular septal defect, and localized noncompaction of the septal myocardium were present. Although fibroblast culture was not successful, fluorescent in situ hybridization of paraffin-embedded tissue showed a normal set of chromosomes 13, 18, 21, X and Y. Our observation supports the hypothesis that this malformation combination may constitute a distinct entity. However, so far, a genetic defect remains to be identified.
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