A. Iida et al., CRANIOSYNOSTOSIS WITH JOINT CONTRACTURES, EAR DEFORMITY, CLEFT-PALATE, SCOLIOSIS, AND OTHER FEATURES, The Cleft palate-craniofacial journal, 32(6), 1995, pp. 489-493
A case of craniosynostosis with joint contractures, ear deformity clef
t palate, scoliosis, and many other features is presented. The patient
's skull was round with craniosynostosis of the coronal suture. The fi
ngers were slender and long; the finger joints were contracted. Trismu
s was also present. Contracture of the temporomandibular joint was sus
pected. The helices were flat, antihelices were minimal, and the ears
protruded. Furthermore, the facial and cranial features of this patien
t included mild hypertelorism, ocular proptosis, short pens nasi, flat
radix nasi, mild retrognathia, and small oral fissure. In the oral ca
vity, a relatively wide cleft extended from the soft palate to the uvu
la. A frontal chest radiograph revealed a mild scoliosis. Differential
diagnoses are discussed in reported syndromes with craniosynostosis.