The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome

• Published in: American journal of medical genetics Vol. 16; no. 2; p. 213
• Main Authors: Chen, H, Blumberg, B, Immken, L, Lachman, R, Rightmire, D, Fowler, M, Bachman, R, Beemer, F A
• Format: Journal Article
• Language: English
• Published: United States 01-10-1983
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Ankylosis - genetics; Face - abnormalities; Female; Fingers - abnormalities; Humans; Infant, Newborn; Lung - abnormalities; Male; Prenatal Diagnosis; Pterygium - genetics; Syndrome; Ultrasonography
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320160211

We report on five cases of lethal Pena-Shokeir syndrome from three families with affected sibs. In addition to multiple anklyoses, camptodactyly, facial anomalies, and pulmonary hypoplasia, one fetus had pterygia of the neck and axillae and cardiac hypoplasia. Radiographic changes are nonspecific and probably are related to a lack of intrauterine movement. Our data and review of the literature suggest that pterygium formation is one of the manifestations of the Pena-Shokeir syndrome. A recently described lethal form of the recessively inherited multiple pterygium syndrome may represent a severe form of the Pena-Shokeir syndrome.