A distinct dysmorphy syndrome with bone and cartilage maldevelopment. Long list of craniofacial defects and anomalies of extremities include craniosynostoses, midface hypoplasia, trapezoidocephaly; humeroradial synostosis, femoral bowing, easy bone fractures (frequently connatal). From birth. Both sexes. Sporadic cases and autosomal recessive inheritance.
Antley and Bixler defined the syndrome on the basis of one case in 1975.
- R. M. Antley, D. Bixler:
X-trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures.
Birth Defects Original Article Series, New York, XI(2), 1975: 397-401.
- D. Bixler, R.M. Antley:
Development in trapezoidocephaly-multiple synostosis syndrome.
American Journal of Medical Genetics, New York, 1983, 14: 149-150.