Shprintzen-Goldberg marfanoid syndrome: A case followed up for 24 years

A patient with Shprintzen-Goldberg syndrome was followed tip for 24 years. The patient's parents were unrelated and unaffected. Walking and speech were delayed. Facial dysmorphism was obvious as well as pectus excavatum, scoliosis, bilateral dislocation of the radial heads, hammer toes and hallux valgus, pes planus, arachnodactyly, and camptodactyly. Skin was thin and fragile. CT scan showed ventricular enlargement. He had a mitral valve prolapse. He was operated on twice for bilateral inguinal and crural hernia and several times for his foot deformities. Puberty was delayed until 18 years. At 24 years of age he was still thin, dolichocephalic, and the facial dysmorphic features were still obvious. Pectus excavatum was still severe but the thoracolumbar scoliosis was mild. His foot deformities had improved and his joints were less hypermobile. Psychomotor development was quite normal. His main concern was the minimal subcutaneous fat and fragility of skin. Echocardiography was now normal.