Imerslund syndrome with dolichocephaly.
Imerslund syndrome is a rare autosomal recessive disorder of megaloblastic anemia as a result of selective vitamin B12 malabsorption associated with proteinuria. An Arabic Muslim family is described, with three children who had inherited selective vitamin B12 malabsorption with proteinuria. Dolichocephaly was noted in all the male children of this family in association with congenital megaloblastic anemia and proteinuria. The findings of this anemia are compatible with Imerslund-Gräsbeck syndrome, and coexistence of this syndrome with dolichocephaly in a single family has not been previously reported.
Ben-Ami
M
M
Department of Pediatrics B, Central Emek Hospital, Afula, Israel.
Katzuni
E
E
Koren
A
A
D000749:Anemia, Megaloblastic / Q000209:etiology*; D003241:Consanguinity; D005006:Ethnicity; D005260:Female; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000235:genetics; D007223:Infant; D007557:Israel; D008286:Malabsorption Syndromes / Q000150:complications / Q000235:genetics*; D008297:Male; D011507:Proteinuria / Q000235:genetics; D012886:Skull / Q000002:abnormalities*; D014805:Vitamin B 12 / Q000378:metabolism; D014806:Vitamin B 12 Deficiency / Q000209:etiology*
D014805:Vitamin B 12