This disorder is characterized by short stature, normal head size, micromelia, kyphoscoliosis, cleft palate, cystic masses in auricles, talipes equinovarus, joint contractures and abduction of thumbs ('hitchhiker thumbs').
Se caracteriza por marcada disminución de la talla, normocefalia, micromelia, cifoescoliosis, paladar hendido, quistes del pabellón auricular, pie equino varo, contracturas articulares y pulgares abducidos.scielo-abstract scielo-abstract