Thanatophoric dysplasia: a case report and review of literature.
Autopsy was performed on a fetus of 6 months gestation with sonologic features of skeletal dysplasia to arrive at a pathological diagnosis. Radiograph of fetus was taken which showed short limb bones, curved femora, flattened vertebral bodies with wide intervertebral spaces, bell-shaped chest, short ribs with flared ends which are features described in Thanatophoric dysplasia. This was confirmed by histopathological findings in the epiphyseal growth plate. In this paper, we attempt to describe the radiological and pathological findings of our case with a discussion on comparative literature.
Indu
P S
PS
Department of Pathology, Medical College, Kottayam. drindups@yahoo.com
Poothiode
Usha
U
Augustine
Joy
J
Pillai
Sreekala B
SB
D000028:Abortion, Induced; D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging; D004838:Epiphyses / Q000473:pathology; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000473:pathology; D005333:Fetus / Q000000981:diagnostic imaging / Q000473:pathology; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D011859:Radiography; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging / Q000473:pathology; D016216:Ultrasonography, Prenatal