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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.

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

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Autosomal recessive.

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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.

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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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