Abstract
Two infants with the Hanhart syndrome, i.e. micrognathia, microglossia, terminal deficiency of all limbs and imperforate anus in one, were dissected and studied in detail. The interrelationships of the muscular and skeletal defects suggested that they were the result of incomplete rather than abnormal morphogenesis. We speculate that the oral and limb abnormalities resulted from deficient mesodermal proliferation caused by disturbances in the ectodermal-mesodermal interactions beginning about the 4th week of development. The imperforate anus may also relate to the proposed defect.
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Supported by USPHS/NIH Grants GM 15422, 5-KO4-HD 18982, and GM 20 130; and NIH GM 00723-14, Anatomy Training Grant. Contributed, in part, as Paper No. 1883 from the University of Wisconsin Genetics Laboratory
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Bersu, E.T., Pettersen, J.C., Charboneau, W.J. et al. Studies of malformation syndromes of man XXXXIA: anatomical studies in the Hanhart syndrome —A pathogenetic hypothesis. Eur J Pediatr 122, 1–17 (1976). https://doi.org/10.1007/BF00445029
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DOI: https://doi.org/10.1007/BF00445029