Café au lait macules and cerebro-oculo-facio-skeletal syndrome: a novel association.
Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound microcephaly, mental retardation, hyperkinesis, failure to thrive, and orthopedic abnormalities (1). It is a heterogeneous syndrome, and a number of variant cases have been reported. We report a patient with the features of COFS, with associated widespread hyperpigmented patches.
Twede
James Vernal
JV
National Naval Medical Center-Dermatology, Bethesda, Maryland 20899-5600, USA. jamestwede@gmail.com
Difazio
Mark
M
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D019080:Cafe-au-Lait Spots / Q000235:genetics / Q000473:pathology*; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology*; D005124:Eye Abnormalities / Q000235:genetics / Q000473:pathology*; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D008297:Male; D010641:Phenotype; D013577:Syndrome