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Cystic fibrosis and Helicobacter pylori gastritis, megaloblastic anaemia, subnormal mentality and minor anomalies in two siblings: a new syndrome?

  • Medical Genetics
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Abstract

Two siblings of consanguineous Arab parents were found to have cystic fibrosis and gastritis associated withHelicobacter pylori, folate deficiency megaloblastic anaemia, subnormal mentality and minor anomalies. The association ofH. pylori and megaloblastic anaemia has not been described in patients with cystic fibrosis.H. pylori infection and gastritis is probably more common in patients with cystic fibrosis than appreciated. We believe that the constellation of features in the two sibs represent a possible new autosomal recessive cystic fibrosis-like syndrome.

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Abbreviations

CF:

cystic fibrosis

DHFR:

dihydrofolate reductase

Hb:

haemoglobin

H. pylori :

Helicobacter pylori

IQ:

intelligence quotient

MCH:

mean corpuscular haemoglobin

MCV:

mean corpuscular volume

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Lubani, M.M., Al-Saleh, Q.A., Teebi, A.S. et al. Cystic fibrosis and Helicobacter pylori gastritis, megaloblastic anaemia, subnormal mentality and minor anomalies in two siblings: a new syndrome?. Eur J Pediatr 150, 253–255 (1991). https://doi.org/10.1007/BF01955524

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  • DOI: https://doi.org/10.1007/BF01955524

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