ABSTRACT
Emery-Dreifuss dystrophy, an X-linked disorder, is a recently recognized distinct neuromuscular disease with special pediatric implications. We describe three affected boys with the typical early contractures and weakness. Two patients are from a large kindred that includes older affected males and carrier females, both of whom had lethal cardiac disease by mid-adulthood. The atrial arrhythmias are treatable by pacemaker if the diagnosis is established beforehand.
Subject(s)
Muscular Dystrophies/pathology , Adolescent , Adult , Arrhythmias, Cardiac/etiology , Child , Female , Heterozygote , Humans , Male , Middle Aged , Muscular Dystrophies/complications , Muscular Dystrophies/genetics , Muscular Dystrophy, Emery-Dreifuss , Sex Chromosome Aberrations/complications , Sex Chromosome Aberrations/pathology , X ChromosomeABSTRACT
The Robin sequence is a pathogenetically and etiologically heterogeneous conditions that can be an isolated defect or one feature of many different syndromes. The association of this pattern of malformation with neuromuscular conditions has been alluded to in the literature but not well documented. We report a family with a distinct neuromuscular condition that includes the Robin sequence and discuss the human syndromes and animal models in which the Robin sequence occurs.