Pyknoachondrogenesis: an association of skeletal defects resembling achondrogenesis with generalized bone sclerosis. A new condition?
A stillborn male with skeletal anomalies resembling achondrogenesis with remarkably sclerotic bones is reported. The term "Pyknoachondrogenesis" is suggested for this hitherto undescribed condition.
D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications* / Q000235:genetics; D010026:Osteosclerosis / Q000150:complications* / Q000235:genetics