title: Thanatophoric dysplasia type I: a rare case report at fetal autopsy.
abstract: Thanatophoric dysplasia type 1 is a lethal congenital anomaly with skeletal dysplasia. It is characterized by short limb dwarfism, enlarged head with frontal bossing, short neck, protuberant abdomen. It is detected in early gestational period by ultrasonography. The other associated anatomical abnormalities and characteristic laboratory findings aid in the early diagnosis and further work-up.
authors.affiliation: Department of Pathology, J.N. Medical College, Belgaum, Karnataka, India.
authors.forename: Reshma S
authors.initials: RS
authors.lastname: Davanageri
authors.affiliation: Department of Pathology, J.N. Medical College, Belgaum, Karnataka, India.
authors.forename: Parul D
authors.initials: PD
authors.lastname: Shokeen
authors.affiliation: Department of Pathology, J.N. Medical College, Belgaum, Karnataka, India.
authors.forename: Hema B
authors.initials: HB
authors.lastname: Bannur
authors.affiliation: Department of Obstetrics and Gynaecology, J.N. Medical College, Belgaum, Karnataka, India.
authors.forename: Kamal P
authors.initials: KP
authors.lastname: Patil
keywords: Fetal autopsy; short limb; thanatophoric dysplasia