Multiple pterygium syndrome, lethal type (pterygium, multiple, lethal type)

General: Autosomal recessive; nonconsanguineous parents; lethal.

Ocular: Hypertelorism; epicanthal fol 616c29g ds.

Clinical: Multiple pterygia involving chin to sternum, cervical, axillary, antecubital, and popliteal areas; flexion contracture of multiple joints; small chest; hydrops; markedly flattened nasal bridge with hypoplastic nasal alae; cleft palate; micrognathia; lowset, malformed ears; short neck with a cystic hygroma on back of neck, head; pulmonary and cardiac hypoplasia; hypoplastic teeth; elongated clavicles; cryptorchidism; foot deformities; arthrogryposis; hypoplasia of the left arm, leg, pelvis, and kidney.

Chen H, et al. Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome. Am J Med Genet 1984; 17:809-826.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Spearritt DJ, et al. Lethal multiple pterygium syndrome: report of a case with neurological anomalies. Am J Med Genet

Willems PJ, et al. Multiple pterygium syndrome with body asymmetry. Am J Med Genet 1993; 47:106-l11.