A new patient with Lowry-Wood syndrome with mild phenotype.
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.
Brunetti-Pierri
Nicola
N
Department of Pediatrics, Federico II University, Naples, Italy.
De Brasi
Daniele
D
Ikegawa
Shiro
S
Camera
Giovanni
G
Andria
Generoso
G
Sebastio
Gianfranco
G
D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology*; D064236:Cartilage Oligomeric Matrix Protein; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005808:Genes, Recessive; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D064235:Matrilin Proteins
D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human