title: Meckel-Gruber syndrome: a rare clinical entity.
abstract: Meckel-Gruber syndrome is an inherited genetic disorder of unknown aetiology. It is an autosomal recessive condition and its incidence is as rare as 1:13,250 to 1:140,000. Some population show an increased incidence of this condition eg, Finnish and Gujarati Indians. Since the time it was first reported by Meckel in 1822 and subsequently by Gruber in 1934, only 200 cases have been reported. Here the case was diagnosed antenatally by an ultrasound and termination of the pregnancy at an early stage was done as per the wishes of the parents. This interesting and rare case of Meckel-Gruber syndrome is reported here.
authors.affiliation: Department of Obstetrics and Gynaecology, RG Kar Medical College and Hospital, Kolkata 700004.
authors.forename: Tulika
authors.initials: T
authors.lastname: Jha
authors.forename: Jayati
authors.initials: J
authors.lastname: Bardhan
authors.forename: Bibekananda
authors.initials: B
authors.lastname: Das
authors.forename: Kajal Kumar
authors.initials: KK
authors.lastname: Patra
authors.forename: Badal
authors.initials: B
authors.lastname: Dhali
authors.forename: Shelley
authors.initials: S
authors.lastname: Seth
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D002925:Ciliary Motility Disorders / Q000000981:diagnostic imaging; D004677:Encephalocele / Q000000981:diagnostic imaging; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D007690:Polycystic Kidney Diseases / Q000000981:diagnostic imaging; D011247:Pregnancy; D012174:Retinitis Pigmentosa; D050497:Stillbirth; D016216:Ultrasonography, Prenatal; D055815:Young Adult