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  • Title: Severe axial mesodermal dysplasia spectrum in an infant of a diabetic mother.
    Author: Depraetere M, Dehauwere R, Mariën P, Fryns JP.
    Journal: Genet Couns; 1995; 6(4):303-7. PubMed ID: 8775416.
    Abstract:
    Severe axial mesodermal dysplasia spectrum in an infant of a diabetic mother: We report a 6 weeks old girl with manifestations of the caudal regression sequence. At birth she presented severe contractures of both lower extremities, bilateral talipes equinovarus, absence of the spinal vertebral bodies below the 12th thoracic vertebra, agenesis of sacrum and coccyx, a transversal twelfth rib, bilateral small kidneys, a neurogenic bladder, hypoplastic external genitalia, anal sfincter insufficiency and an atrial septum defect. Pregnancy was complicated by severe diabetes. This spectrum of anomalies is probably due to a generalized alteration in mesodermal cell migration during the primitive streak period. This sequence is strongly associated with maternal diabetes which seems to play a major teratogenic role.
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