[Coexistence of late spondyloepiphyseal dysplasia and congenital megaloblastic anemia with proteinuria in the same family].
A case of spondyloepiphyseal dysplasia tarda was noted in a dwarf (130 cm tall) 18 years old boy associated with congenital megaloblastic anemia and proteinuria. His two sisters and a cousin are also suffering from similar hematologic disorder. One of his brothers, 145 cm tall, is also involved by spondyloepiphyseal dysplasia, but there is no known hematologic abnormalities. Review of family history revealed that two aunts from mother's side were deceased in adulthood following a chronic anemic disease. The findings in this anemia are compatible with Imerslund-Grâsbech syndrome and coexistence of these two rare genetic disorders in a single family has not been reported previously.
D000293:Adolescent; D000748:Anemia, Macrocytic / Q000235:genetics*; D000749:Anemia, Megaloblastic / Q000150:complications / Q000151:congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications / Q000235:genetics*; D011507:Proteinuria / Q000150:complications / Q000235:genetics*
Coexistence d'une dysplasie spondylo-épiphysaire tardive et d'une anémie mégaloblastique congénitale avec protéinurie dans la même famille.