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703 Case Report - A Patient with Bone Formation Defects During Prenatal Life Diagnosed as ‘Shwachman-Diamond Syndrome’
  1. O Beser1,
  2. I Dokurel2,
  3. T Kutlu1,
  4. T Erkan1,
  5. FC Cokugras1
  1. 1Pediatric Gastroenterology, Hepatology and Nutrition
  2. 2Dept. of Pediatrics, Istanbul University Cerrahpasa Medical Faculty, Istanbul, Turkey


CaseReport Shwachman-Diamond syndrome(SDS) is an autosomal recessive disorder with clinical features that include pancreatic exocrine insufficiency, hematological dysfunction and skeletal abnormalities during development after birth and varies with age. The patient was born as the first child to healty, term. Labour was induced at 20 wk gestation because of symetrical fetal growth retardation. Congenital infections were excluded. In the fetal karyotype analysis, no chromosomal abnormalities were detected. Molecular genetic analysis for achondroplasia and hypocondroplasia was performed and gave negative results. After birth, laboratory studies were normal. At the age of six months the patient’s height, weight and head circumference remained below 3 percentile. During the sixth month of life, the child’s blood count were evaluated retrospectively and intermittent neutropenia was documented. When she presented with increased fat loss and failure to thrive, fecal elastase level was < 50ug/g, low serum trypsinogen level was found. These results were primarily the signs of severe pancreatic insufficiency. On the CT scanning of pancreas, scattered fatty infiltration was detected. The X-ray imaging of the thorax showed narrow thorax. Although on spinal X-ray metaphyseal changes on the costo-chondral junctions was not detected; ‘Metaphyseal dysostosis’ of the femoral head and distal femur the was observed more remarkable than upper limbs. When SBDS gene which is a causative gene for Scwachman-Diamond Syndrome was analyzed by DNA sequence analysis.

Discussion In contrast to the previous observations, results suggest that the characteristic skeletal changes present in some patients in the intrauterine period of life. Our observation underlines the necessity to consider SDS as the other common reasons of prenatally diagnosed bone disorders like achondroplasia and hypocondroplasia.

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