A case of diastrophic dysplasia associated with mega cysterna magna
Küçük Resim Yok
Tarih
2007
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Aves Yayincilik, Ibrahim Kara
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Newborn, Diastrophic Dysplasia, Mega Cysterna, Magna, Hitchhiker's Thumb, Variant
Kaynak
Trakya Universitesi Tip Fakultesi Dergisi
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
24
Sayı
2
