Association of Duane anomaly with mental retardation, cardiac and urinary tract abnormalities: a new autosomal recessive condition?

Abstract

The authors report on a child in which the occurrence of cardiac defect, urinary tract anomaly, and Duane anomaly was associated with mental retardation. The parents were first cousins. The index case was a 3-year-old girl referred for mental retardation. Auricular septal defect was diagnosed at birth. She was surgically treated for bilateral vesico-ureteral reflux at 2 years of age. At examination, she had a mild facial dysmorphism, microcephaly, spastic paraplegia and Duane anomaly. The Duane anomaly may occur in association with various partly overlapping syndromes that may be part of the same clinical spectrum, as the cervico-oculo-acoustic syndrome, the cat eye syndrome and syndromes inherited in an autosomal dominant fashion: the acro-reno-ocular syndrome and the Okihiro syndrome. Their patient seems to have a different condition from all of these previously reported syndromes associated with the Duane anomaly. Their suggest that this condition is best described as a new syndrome.

• Authors: C Stoll, Y Alembik, B Dott
• Journal: Annales de genetique (Ann Genet) Vol. 37 Issue 4 Pg. 207-9 ( 1994) ISSN: 0003-3995 [Print] Netherlands
• PMID: 7710257 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Child, Preschool
• Duane Retraction Syndrome (genetics)
• Female
• Genes, Recessive
• Heart Defects, Congenital (genetics)
• Humans
• Intellectual Disability (genetics)
• Pedigree
• Urinary Tract (abnormalities)