[Unviable micromelic dwarfism: a syndrome with dystrophy of the thorax and polydaktyly type Saldino-Noonan (author's transl)].
Besides classical achondroplasia various severe osteochondrodysplastic disorders have been differentiated in recent years. Their most important features include obligatory perinatal mortality, severe dystrophy of the thorax and shortening of tubular bones. Additionally some of these syndromes present visceral malformations, cleft-lip, and malformations of the genitals. A detailed case report of a patient is given. Various features: dystrophy of the thorax, micromelia, postaxial polydactyly, metaphyseal dysplasia, malformations of the great vessels, and polcystic kidney suggest the classification as short rib-polydactyly syndrome, type Saldino-Noonan.
D001011:Aorta / Q000002:abnormalities; D001132:Arm / Q000002:abnormalities; D004392:Dwarfism / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007866:Leg / Q000002:abnormalities; D008297:Male; D007690:Polycystic Kidney Diseases / Q000175:diagnosis; D011859:Radiography; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities*
Nicht lebensfähiger, mikromeler Zwergwuchs: Thoraxdystrophie-Polydaktylie-Syndrom Typ Saldino-Noonan