All issues > Volume 38(9); 1995

Case Report

J Korean Pediatr Soc. 1995;38(9):1299-1303. Published online September 15, 1995.

A Case of Meckel-Gruber Syndrome

Hye Jin HJ Lee¹, Eun Ae EA Park¹, Gyoung Hee GH Kim¹

¹Department of Pediatrics, Ewha Womans University College of Medicine, Seoul, Korea

Abstract

We report a case of male neonate that showed multiple congenital anomalies that could be designated as Meckel-Gruber syndrome. The principle signs of Meckel-Gruber syndrome are encephaolcelem, polydactly, and polycystic kidneys with normal karyotype. Due to rarity of the Meckel-Gruber syndrome, the cause was still unknown. At present, autosomal recessive is thought to be as one of the causes. This malformation syndrome is rare and lethal. The prenatal diagnosis should be made by ultrasound study or analysis of the amniotic fluid for alpha- fetoprotein during intrauterine period. He was evaluated by plain X-ray, abdominal sonography. After he died, autopsy was performed. The results revealed multiple anomalies which included absence of olfactory nerve, cleft lip and palate, low set ears, polydactly of left hand, hypogonadism, bilateral polycystic kidneys and patent ductus arteriosus. We report this case with brief review of some related literatures.

Keywords :Meckel-Gruber syndromes