Adams Oliver syndrome: a family with extreme variability in clinical expression.

Abstract

We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies. The clinical variation between the individuals is more pronounced than in previously reported families.

• Authors: J S Bamforth, P Kaurah, J Byrne, P Ferreira
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 49 Issue 4 Pg. 393-6 (Feb 15 1994) ISSN: 0148-7299 [Print] United States
• PMID: 8160731 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Adult
• Brain (abnormalities)
• Bronchi (abnormalities)
• Epilepsy (congenital)
• Female
• Heart Defects, Congenital (genetics)
• Humans
• Infant, Newborn
• Intellectual Disability (genetics)
• Kidney (abnormalities)
• Limb Deformities, Congenital
• Scalp (abnormalities)
• Syndrome