ISSN : 2146-3123
E-ISSN : 2146-3131

A Case of Diastrophic Dysplasia Associated With Mega Cysterna Magna
Rıdvan Duran 1, Ülfet Vatansever 1, Nükhet Aladağ 1, Betül Acunaş 1, Beyhan Tüysüz 1
1Trakya Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Edirne
Pages : 158-161

Abstract

Skeletal dysplasias comprise a large group of hereditary disorders characterized by abnormal growth, short stature and malformations and deformations of bone and cartilage. Diastrophic dysplasia is a skeletal disorder characterized by short stature, foot and spinal deformities, hitchhiker's thumb and ear abnormalities. Internal organs develop normally. The physical examination of the newborn referred to our hospital for multiple abnormalities revealed a poor general condition with cyanosis, disproportionate short stature, large front fontanel, short neck, misshapen upper ear and ‘cauliflower' deformity, cleft palate, hitchhiker's thumb, long and slim fingers except the thumb, proximally located toes, flexion contractures in the large joints, bilateral talipes equinovarus and left scrotal hernia. Mega cysterna magna was demonstrated in the posterior fossa in the cranial tomography. With these clinical and radiological findings, the newborn was diagnosed as diastrophic dysplasia. The infant was discharged on day 19 after genetic counseling to the family and was to be followed up by the newborn outpatient clinic.

Keywords : Newborn; diastrophic dysplasia; mega cysterna magna, hitchhiker's thumb
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