A familial syndrome of trigonocephaly, short stature, and retarded psychomotor development. Head and neck symptoms are craniosynostosis involving the metopic suture with trigonocephaly. Additional defects may include premature synostosis of the lambdoid suture, involvement of the sagittal suture, closed posterior fontanel, frontal vertical ridging, and narrow forehead. Eyes: Hypotelorism. Occasional symptoms are highly arched palate, clinodactyly, and ventricular septal defect. There is growth, motor, and mental retardation. Inheritance is X-linked recessive.
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Trigonocephaly and associated minor anomalies in mother and son.
Journal of Medical Genetics, London, 1976, 13: 77-9
- B. Say, J. Meyer:
Familial trigonocephaly associated with short stature and developmental delay.
American Journal of Diseases of Children, Chicago, 1981, 135: 711-712.