Craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features

A case of craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and many other features is presented. The patient's skull was round with craniosynostosis of the coronal suture. The fingers were slender and long; the finger joints were contracted. Trismus was also present. Contracture of the temporomandibular joint was suspected. The helices were flat, antihelices were minimal, and the ears protruded. Furthermore, the facial and cranial features of this patient included mild hypertelorism, ocular proptosis, short pons nasi, flat radix nasi, mild retrognathia, and small oral fissure. In the oral cavity, a relatively wide cleft extended from the soft palate to the uvula. A frontal chest radiograph revealed a mild scoliosis. Differential diagnoses are discussed in reported syndromes with craniosynostosis.