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335 TIBIAL HEMIMELIA, PREAXIAL POLYDACTYLY, AND VERTEBRAL ANOMALIES: A PATTERN OF MALFORMATIONS IN INFANTS OF DIABETIC MOTHERS
  1. J. T. Shieh1,
  2. T. Jewett1,
  3. M. A. Manning1,
  4. L. Hudgins1
  1. 1Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine

Abstract

Infants of diabetic mothers are at increased risk for a number of malformations including those of the heart, ears, and skeletal system. These malformations are usually not specific, however. We present 3 infants of diabetic mothers with a very specific pattern of malformations including tibial hemimelia, a unique form of preaxial polydactyly of the feet, and vertebral anomalies. The infants all were identified at birth. A history of maternal diabetes was found in each case. Case 1 had left tibial hemimelia, preaxial polydactyly of the left foot involving a digit placed “adjacent to the proximal aspect of the first metatarsal,” bilateral hip dysplasia, and segmentation abnormalities of the spine. Case 2 had unilateral tibial hemimelia, bilateral preaxial polydactyly of the feet, spinal dysraphism, and segmentation abnormalities of the spine. Case 3 had unilateral tibial hemimelia, bilateral preaxial polydactyly of the feet, bilateral hip dysplasia, absent pedicles on the lumbar spine, and deficiency in rib number. Tibial hemimelia is a form of limb deficiency characterized by tibial hypoplasia with an intact fibula. It has been described in other conditions, but it is usually associated with an absent hallux. In contrast, the described infants of diabetic mothers had tibial hemimelia and specific proximal hallucal polydactyly, a form of polydactyly that has been described as being specific for diabetic embryopathy (Carey et al. 1990). One report proposed that these findings make a distinctive pattern of malformations in infants of diabetic mothers (Slee et al. 1997).The cases presented provide further evidence that tibial hemimelia, vertebral anomalies, and a particular preaxial polydactyly of the feet comprise a specific pattern of malformations in infants of diabetic mothers. Interestingly, “dominant hemimelia” mice can have tibial shortening and polydactyly of the feet. Thus both genetic and environmental factors may contribute to this specific embryopathy in infants of diabetic mothers.

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