[Campomelic syndrome].
A case of campomelic syndrome, the first one in Austria, is described. This syndrome, known since 1971, is characterised by congenital shortening and bowing of long bones, with pretibial skin dimples, other abnormalities of bones, and spine prenatal dwarfism, kraniofacial dysmorphia and malformations of heart, kidney and brain. Death in the neonatal periode or in early infancy is the rule. An autosomal recessive mode of inheritance is discussed.
D000015:Abnormalities, Multiple / Q000150:complications*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004392:Dwarfism / Q000150:complications*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012127:Respiratory Distress Syndrome, Newborn / Q000401:mortality; D013577:Syndrome
Kampomeles Syndrom.