ICF syndrome with variable expression in sibs.

THE SYNDROME OF DIABETES INSIPIDUS, DIABETES MELLITUS, OPTIC ATROPHY, DEAFNESS, AND ATONIA OF THE URINARY TRACT (DIDMOAD SYNDROME). TWO AFFECTED SIBS AND A SHORT REVIEW OF THE LITERATURE

Two brothers with DIDMOAD syndrome are reported. The older brother has diabetes mellitus (type I), diabetes insipidus, optic atrophy, deafness and atonia of the urinary tract with severe symptoms such as diabetic ketoacidosis and frequent urinary tract infections. His younger brother had the same manifestations but with less severity. We report the findings of our two patients and compare ...

Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology

BACKGROUND Immunodeficiency Centromeric Instability and Facial anomalies (ICF) is a rare autosomal recessive disease characterized by reduction in serum immunoglobulins with severe recurrent infections, facial dysmorphism, and more variable symptoms including mental retardation. ICF is directly related to a genomic methylation defect that mainly affects juxtacentromeric heterochromatin regions ...

Early onset asymmetrical intrauterine growth retardation with fetal hypokinesia and variable expression of acral and genitourinary malformations: a new lethal MCA syndrome.

We report four sibs, two males and two females, with severe and early onset asymmetrical intrauterine growth retardation (IUGR) with a disproportionally large head and a fetal akinesia deformation sequence. Neuromuscular studies were normal in the four sibs. Variable acral malformations (bilateral cleft hand in one male, proximal syndactyly of the toes (right II-III; left II-III/IV-V) in the ot...

Ehlers-Danlos syndrome: variable expression in sibs.

A case with ICF syndrome lost to rubella pneumonitis.

The immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder characterized by variable immunodeficiency, instability of the pericentromeric heterochromatin, and facial dysmorphism. Here we report a new case of ICF syndrome who died of rubella pneumonitis. A six year-old-girl who was the first child of consanguineous parents was admitt...