Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay

Stoll et al. (1994) reported 3 sibs (2 females and 1 male), born of first-cousin parents, with a similar complex of abnormalities: delay in physical and psychomotor development, facial dysmorphism (prominent forehead, midface hypoplasia, short philtrum), relapsing respiratory, gastrointestinal and urinary infections, steatorrhea, and neutropenia. Bronchiectasis was found in all 3 patients. A sweat test was normal. Immunologic study of the older sister showed a low number of E rosettes, which was not corrected by thymosin. The 2 older sibs exhibited cardiovascular malformations (aortic insufficiency in the girl, auricular septal defect and tricuspid insufficiency in the boy). Both sisters had vesicoureteral reflux. Acute myeloblastic leukemia was diagnosed in the older girl at the age of 14 years. Cytogenetic study of the patients was normal. Normal output of pancreatic enzymes and the absence of bone abnormalities ruled out the diagnosis of Shwachman syndrome (260400), and stability of centromeres and no increase in micronuclei in PHA-stimulated cultures ruled out the ICF syndrome (242860). Stoll et al. (1994) concluded that the associations found in the 3 sibs represented a distinct syndrome with autosomal recessive inheritance.