title: A syndrome of facial dysmorphia, birth defects, myelodysplasia and immunodeficiency in three sibs of consanguineous parents.
abstract: We report on three sibs (two females, one male) with a syndrome including physical and mental developmental delay, facial dysmorphia, an increased number of skin folds and recurrent infections. Pulmonary infections were especially severe and frequent, leading to bronchiectasis. Steatorrhea was intermittent. A sweat test was normal. Congenital heart defect was present in two sibs and vesico-ureteral reflux was diagnosed in two sibs. Neutropenia was the most obvious immunological defect. Myelodysplasia was noted. Acute myeloblastic leukemia developed in one sib. The healthy parents of the patients are first cousins. The consanguinity of the parents points-to an autosomal recessive mode of inheritance of this new syndrome but a mitochondrial disorder cannot be excluded.
authors.affiliation: Institut de puériculture, Centre hospitalier et universitaire, Strasbourg.
authors.forename: C
authors.initials: C
authors.lastname: Stoll
authors.forename: Y
authors.initials: Y
authors.lastname: Alembik
authors.forename: P
authors.initials: P
authors.lastname: Lutz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005500:Follow-Up Studies; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics; D008297:Male; D009436:Neural Tube Defects / Q000235:genetics*; D009503:Neutropenia / Q000235:genetics; D010375:Pedigree; D010641:Phenotype