Emery-Dreifuss syndrome: genetic and clinical varieties.

Abstract

Two familial and 2 sporadic cases of Emery-Dreifuss syndrome are reported. One family presented a rare autosomal dominant variant of Emery-Dreifuss muscular dystrophy, another with X-linked recessive inheritance showed unusual intrafamilial variability. One of sporadic cases closely resembled rigid spine syndrome, the other was clinically intermediate between Emery-Dreifuss muscular dystrophy and rigid spine syndrome, showing that they are not distinct disorders.

• Authors: G E Rudenskaya, E K Ginter, A N Petrin, N A Djomina
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 50 Issue 3 Pg. 228-33 (Apr 15 1994) ISSN: 0148-7299 [Print] United States
• PMID: 8042665 (Publication Type: Case Reports, Journal Article)

Topics

• Adolescent
• Adult
• Child
• Contracture (genetics)
• Female
• Genes, Dominant
• Heart Block (genetics)
• Humans
• Infant, Newborn
• Male
• Muscular Atrophy (genetics)
• Muscular Dystrophies (classification, genetics, pathology)
• Pedigree
• Phenotype
• Syndrome
• X Chromosome