A new patient with Lowry-Wood syndrome with mild phenotype.

Abstract

Lowry-Wood syndrome (LWS) is a rare condition characterized by multiple epiphyseal dysplasia (MED), microcephaly, and congenital nystagmus. A variable degree of mental retardation can also be present. It is probably inherited as an autosomal recessive trait. We report a new case of MED and microcephaly, without other additional features, suggesting a mild form of LWS. Molecular analysis of the cartilage oligomeric matrix protein (COMP) gene was performed and failed to find mutations.

• Authors: Nicola Brunetti-Pierri, Daniele De Brasi, Shiro Ikegawa, Giovanni Camera, Generoso Andria, Gianfranco Sebastio
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 118A Issue 1 Pg. 68-70 (Apr 01 2003) ISSN: 1552-4825 [Print] United States
• PMID: 12605445 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2003 Wiley-Liss, Inc.

Chemical References

• Cartilage Oligomeric Matrix Protein
• Extracellular Matrix Proteins
• Glycoproteins
• Matrilin Proteins
• TSP5 protein, human

Topics

• Abnormalities, Multiple (genetics, physiopathology)
• Cartilage Oligomeric Matrix Protein
• Child, Preschool
• DNA Mutational Analysis
• Extracellular Matrix Proteins (genetics)
• Genes, Recessive
• Glycoproteins (genetics)
• Humans
• Infant, Newborn
• Matrilin Proteins