A rare disturbance manifested by orthopaedic and cranial anomalies. Characteristic featueres include short stature, craniofacial anomalies, joint contractures, vertebral fusion anomalies, rocker-bottom feet, and pterygia of the neck, antecubital, digital, poplietal, and intercrural areas. Abnormalities of the head usually consist of epicanthal microcephaly, skin folds, long philtrum, antimongoloid palpebral slant, low-set ears, pointed and receding chin, ptosis, down-turned angles of the mouth, cleft lip and palate, and hemangiomas of the forehead. Associated anomalies may include rib defects, scoliosis or lordosis, vertical talus, cryptorchism, hypoplastic labia majora, and mental retardation. Most cases are transmitted as an autosomal recessive trait, some as a dominant trait, and a few are sporadic.
First description of disease picture in 1902 originates with J. A. Boussière. A compilation of the symptoms and entity was done in 1978 by Victor Escobar and associates.
See also Frias’ syndrome, under Jaime L. Frias, Chilenian-American human geneticist, Madison.
- J. A. Bussière:
L’homme au cou de Chapelle, developpement d’un faisceau musculaire acromiomastoidienne rudimentaire, malformation congenital rare, observé à Pondichery (index orientales).
Annales d'hygiène et de médecine coloniales, 1902, 5: 686-688.
- J. M. Frawley:
American Journal of Diseases of Children, Chicago, 1925, 29: 799-805.
- C. P. Scott:
Birth Defects Original Article Series, New York, 1969, 5(2): 231-132.
- Jaime L. Frias, J. R. Holahan, A. L. Rosenbloom, A. H. Felman:
An autosomal dominant syndrome of multiple pterygium, ptosis, and skeletal anomalities.
International Conference on Birth Defects. Vienna 1973.
- Dagfinn Aarskog:
Birth Defects Original Article Series, New York, 1971, 7(6): 232-234.
- V. Escobar, D. Bixler, S. Gleiser, D. D. Weaver, T. Gibbs:
Multiple pterygium syndrome.
American Journal of Diseases of Children, Chicago, 1978, 123: 609-611.