Thanatophoric dwarfism in a Nigerian child.
We describe a lethal variety of congenital short-limbed dwarfism (Thanatophoric dwarfism) characterized by marked shortening of the extremities, macrocephaly with associated hydrocephalus and a narrow thorax, delivered by a 25-year-old woman in our hospital. Experience with this form of abnormality is rare and even an isolated case report will heighten awareness and assist with further management and counselling of parents.
D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging; D011247:Pregnancy; D011859:Radiography; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging