The Coffin-Siris syndrome. A report of four cases and review of the literature.
Four additional cases of the Coffin-Siris syndrome bring the number of reported cases to 16. This disorder is characterized by the absence or hypoplasia of the nails, especially those of the fifth fingers and toes, growth retardation and mental deficiency, microcephaly, coarse facial appearance, sparse scalp hair and lax joints. Feeding difficulties and respiratory problems are common in infancy. Absence or hypoplasia of the distal and middle phalanges, especially those of the fifth finger and toes and retarded bone maturation are the most common radiological features.
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D005145:Face; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007223:Infant; D009264:Nails, Malformed; D013577:Syndrome; D014034:Toes / Q000002:abnormalities