Rehabilitation of Tetra-Amelia syndrome: A Case Report of a Very Rare Disorder Diah Safitri, Marietta Shanti, Ellyana Sungkar, Dian Marta Sari
Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Padjadjaran University, Dr. Hasan Sadikin Academic Teaching Hospital, Bandung, Indonesia
Abstract
Overview: Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs and had been associated with a mutation in the WNT3 gene in one family. The limb malformations appears in about 6/10,000 live births. This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, lung, nervous system, skeleton, and genitalia. Cases are stillborn, or die shortly after birth.
Case description: A three-months old female has chief complaint of not being able to roll from a supine position to a prone position, the strength of the head and neck extensor, rhomboid, back extensor and gluteal muscles was still weak. She has no complaint of heart and respiratory problem. X-ray showed right humeral and left femur deformity. She received strengthening exercise, proprioception exercise in the form of tactile and vestibular inputs to raise awareness of the remaining extremities and facilitation for rolling within 3 months.
Discussion: There was improvement in the head and neck extensor and trunk control in the patient, she can roll, maintain a position when sitting without a backrest and she can put a spoon or teether into the mouth through the rubber band attached to the hand. The management of tetra-amelia syndrome requires a long term and multidisciplinary teamwork in order to achieve optimal functional abilities.
Conclusion: The management of tetra-amelia syndrome requires a long term and multidisciplinary teamwork.
Keywords: Pediatric Rehabilitation, Tetra-amelia syndrome, Very rare disorder
