Dominant inheritance of femoral hypoplasia-unusual facies syndrome.
The femoral hypoplasia-unusual facies syndrome comprises short femurs and a facies with short nose, elongated philtrum, thin upper lip and micrognathia. It is felt to be sporadic in nature. An affected father and daughter are described, implying dominant inheritance.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005145:Face / Q000002:abnormalities*; D005260:Female; D005269:Femur / Q000002:abnormalities*; D005360:Fibula / Q000002:abnormalities; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008684:Metatarsus / Q000002:abnormalities