[Description of a case of thanatophoric dysplasia with cloverleaf skull].
This report presents the clinical, radiographic, and autopsy findings in a newborn infant with thanatophoric dysplasia and cloverleaf skull who died soon after birth. The possible genetic mechanisms of transmission of both malformations are discussed.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D001921:Brain / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000473:pathology*; D011859:Radiography; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging / Q000473:pathology*
Descrizione di un caso di displasia tanatofora con cranio a trifoglio.