Naslov
Distal arthrogryposis: a case report

Autori
Marušić, Romana ; Karl, Dora ; Jurić, Petra ; Pušeljić, Silvija ; Milas, Vesna.

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Book of Abstracts OSCON 2021 / - , 2021, 72-72

Skup
3rd International Translational Medicine Congress Of Students And Young Physicians

Mjesto i datum
Osijek, Hrvatska, 19.03.2021. - 20.03.2021

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
arthrogryposis, congenital contracture, joint contracture

Sažetak
Introduction: Distal arthrogryposis is a rare disorder characterized by non-progressive, multiple joint contractures, most commonly on the distal extremities. It has been identified as an autosomal dominant disorder associated with increased connective tissue formation around the joints leading to impaired muscle movement causing deformities. Case report: We present a male newborn, gestational age 36 weeks. After birth vital, pink, and later becomes dyspneic. Due to visible anomalies and dyspnea, he was transferred to the Department of Neonatology and Neonatal Intensive Care, where he underwent oxygen therapy for three days and was placed in an incubator. This is the mother's 5th pregnancy, obtained through IVF. Pregnancy was preceded by 3 caesarean sections and one artificial abortion. Mother (34) suffers from hypothyroidism, father (27) is healthy. Father’s maternal cousin has bilateral talipes equinovarus. Postnatal ultrasound of the brain and abdomen showed no abnormalities. There are no problems of cardiac etiology. Both arms symmetrical, terminally limited left elbow flexion with ulnar deviation of both hands with pseudocamptodactyly. Pronounced deformities of both legs by type of rigid equinovarus. Hip abduction partially limited. Left knee larger than the right, limited extensions. Both feet in rigid equinovarus. Neurologically present mild hypotonia. Due to the pronounced elements of the malformation syndrome, which is dominated by bone and joint deformities, distal type 1 arthrogryposis is suspected. Conclusion: The diagnosis of distal arthrogryposis is made on the basis of clinical features, neurological examination, and genetic testing. Patients usually need lifelong surgical and non- surgical therapies to improve joint function.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA