Research in Medicine

  Myotonia chondrodystrophia, which is easier to diagnose than describe, is a rare congenital disorder inherited as an autosomal recessive. Myotonia is accompanied by chondrodystrophia and epiphyseal dysplasia. Affected individuals are presenting with growth retardation, pectus carinatum, sadly appearance of face, blepharophimosis, ear and dental abnormalities, puckered lips, and hypertrophic muscles. Articular contractures especially in elbow are existing and patients had problems in gait. EMG changes are usually used to differentiate it from congenital myotonia. Immune deficiency disorders are not noted and its etiology is still remained unknown. Therapeutic affaires are of less importance.

 Case report: we have presented an 8-year old boy referring due to facial deformity. His parents have stated that he had facial deformity and problems in gait since 6 years ago. His problem had progressive course. He had problems in sitting, standing up, and going up stairs, but he had never fallen down. His past medical history has revealed nothing. Now, he is studying in primary school and is a good student, too. His parents were not relevant. He is the second child and the other two children are normal. He has the following indices: Body weight: 21kg, height: 116cm, head circumference: 52 cm, chest: 80cm, BP: 100/60 mmHg, T:37.1 °c.