Congenital absence of the fibula and craniosynostosis in sibs.

A family study of craniosynostosis, with probable recognition of a distinct syndrome.

A family study was based on 184 consecutive patients who had undergone surgery for craniosynostosis at The Hospital for Sick Children, London, between 1953 and 1976. Of these, 127 were traced and visited and are the probands for this study. Crouzon syndrome was recognised in 16, Apert in 11, Saethre-Chotzen in nine, and Pfeiffer in two. In addition, two probands had Saethre-Chotzen-like facies ...

Thanatophoric dwarfism.

A review of the radiographs of children previously classified as achondroplasiacs revealed six thanatophoric dwarfs. The main radiological differentiating features were the greater degree of shortening of the long bones, including the fibula, the curvature of the femora, the very small size of the thorax and, particularly, the very narrow ossified elements of the vertebral bodies. Perhaps the m...

Anterior Plagiocephaly in an Atypical Case of Apert Syndrome

Apert syndrome is a congenital craniosynostosis syndrome comprising of bilateral coronal synostosis , symmetric syndactyly of hands and feet and midface hypoplasia. We present an atypical phenotype of this syndrome with right sided unilateral coronal synostosis. However, type I apert hand and other clinical and radiological features suggestthe diagnosis. Genetic analysis revealed an absence of ...

Congenital Absence of Left Circumflex Coronary Artery

Congenital absence of left circumflex artery is a rare congenital anomaly of the coronary arteries. The prevalence of the anomaly in different studies ranges from 0.6% to 1.3%. Of these, 80% are benign and asymptomatic and 20% are clinically important. We report a 56-year-old man presented with acute resting chest pain who was diagnosed as having acute anterolateral infarction accompanied by el...

Congenital absence of femur and fibula. Report of two cases.