Pena-Shokeir syndrome is defined by camptodactyly, multiple ankyloses, pulmonary hypoplasia, and various facial anomalies.
1) Its signs include camptodactyly, multiple ankyloses, pulmonary hypoplasia, and facial anomalies, including micrognathia, ocular hypertelorism, low-set and malformed ears, and a depressed nasal tip.
Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia--further delineation and evidence for autosomal recessive inheritance.