Meckel Gruber syndrome: A case report with review of literature
Küçük Resim Yok
Tarih
2017
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
MODESTUM LTD
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Meckel-Gruber syndrome, which is firstly described by Friedrich Meckel and Georg B. Gruber, is an autosomal recessive disorder that is characterized triad of occipital encephalocele, bilateral renal dysplasia and polydactyly. Because of the genetic heterogeneity, multiple organs can be affected. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births. We have reported a male baby born at 37-week gestation, who has occipital encephalocele, polydactyly and cystic dysplasia of both kidneys. As a result of these clinical findings, Meckel-Gruber Syndrome is suspected for his baby. This study is presented to draw attention to the Meckel Gruber Syndrome which has high risk of recurrence and early diagnosis by ultrasonographic screening can be confident.
Açıklama
Anahtar Kelimeler
meckel gruber syndrome, encephalocele, renal dysplasia, polydactyly
Kaynak
EUROPEAN JOURNAL OF GENERAL MEDICINE
WoS Q Değeri
N/A
Scopus Q Değeri
N/A
Cilt
14
Sayı
4
