Metatropic Dysplasia: A Description of a Newborn With Suspected Epiphyseal Dysplasia

Abstract

The paper presents a female neonate with a suspected skeletal defect that was eventually diagnosed as metatropic dysplasia. This is the first case of this disease in our clinic. Clinical course of the disease was discussed as well as findings of additional examinations and the differentiation from other diseases with a similar clinical picture. Newborns have a narrow and elongated chest with extremely short limbs, with bones resembling dumbbells. Other problems associated with dysplasia involve the spine (the vertebrae are excessively flattened), and any excessive movement of the cervical spine may lead to spinal cord damage. The chest may be sunken or excessively bowed which may lead to disable full lung expansion that constrains breathing; also joint deformities occur such as contractures limiting movements in the largest joints. In the collected genetic material no TRPV4 mutation was discovered. There are slightly more than 80 cases of this disease described worldwide.




J Endocrinol Metab. 2019;9(5):165-170
doi: https://doi.org/10.14740/jem598