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Triad of blepharophimosis, blepharoptosis, and epicanthus inversus. Occasional presence of spinal bifida occulta, cranial asymmetry, occipital bone flattening, and cleft lip/palate.


Oculopalatoskeletal Syndrome; Clefting-Ocular Anterior Chamber Defect-Lid Anomalies Syndrome.


Autosomal recessive.


Eyelid traits are usually blepharophimosis, blepharoptosis, and telecanthus inversus, plus a developmental defect of the anterior segment of the eye. Craniosynostosis with cranial asymmetry, skeletal defects, hearing deficit, cleft lip and palate, and mild mental retardation; hydronephrosis is described.


Creatinine and blood urea nitrogen should be obtained. The presence of raised intracranial pressure cannot be excluded in presence of craniosynostosis. It is reported that in presence of a one-suture fusion, the intracranial pressure is elevated in 18% of patients and when two or more are involved, 40% of patients have an increase in intracranial pressure.

Sculerati N, Gottlieb MD, Zimbler MS, et al: Airway management in children with major craniofacial anomalies. Laryngoscope 108:1806, 1998.  [PubMed: 9851495]

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