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Multiple congenital anomaly syndrome mainly affecting the central nervous system (CNS), eyes, and skin.

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Delleman Syndrome; Oculocerebrocutaneous (OCC) Syndrome; Orbital Cyst with Cerebral and Focal Dermal Malformations.

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Approximately 30 cases have been described. Males are affected approximately 2.5 times more often than females.

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Most cases are sporadic and may result from mutation of a lethal gene compatible with survival only in the mosaic state. In a few cases, transmission may be autosomal dominant with variable penetrance.

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Mechanism causing the anomalies is poorly understood. Abnormal development in week 5 or 6 of gestation could explain most of the symptoms. Several authors agree that, independent of the causal factor, the pathogenetic mechanism most likely is a disruption of the anterior neuroectodermal plate leading to neurocristopathy with primary craniofacial dysmorphogenesis.

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The most common features of Delleman syndrome are orbital cysts, microphthalmia/anophthalmia, focal hypoplastic skin defects, skin appendages, and cerebral malformations. The triad of ocular, cutaneous, and cerebral features is considered characteristic for the syndrome, with the ocular findings being the most typical and consistent. However, the minimal diagnostic criteria for Delleman syndrome include CNS cysts or hydrocephalus, orbital cysts or microphthalmia, and focal skin defects. To differentiate this syndrome from encephalocraniocutaneous lipomatosis, orbital cysts and agenesis of the corpus callosum are the most reliable signs.

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CNS anomalies may include agenesis/hypoplasia of the corpus callosum, hydrocephalus, porencephaly, Dandy-Walker malformation, cerebral atrophy, arachnoid cysts, encephalocele, and meningocele. Pathologic changes affecting the eye are anophthalmia/microphthalmia and colobomata of eyelids and iris. Skin anomalies include auricular tags, periorbital cysts, pedunculated, hamartomatous (most often periorbital) skin appendages, café au lait spots, and focal dermal hypoplasia. Psychomotor retardation and seizures have been reported in most patients. Midline cleft lip/palate and bifid/fused ribs can be seen occasionally.

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Syndrome may go unrecognized, so silent neuroectodermal abnormalities may be present. Therefore consider CNS imaging in patients with facial skin tags and orbital cysts. Assess neurodevelopment and seizure control. Ask about previous episodes suggestive of aspiration pneumonia and obtain a chest radiograph if in doubt.

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Airway management will be difficult in the presence of severe hydrocephalus and other anomalies, such as a high arched palate. Watch for seizure activity under anesthesia, which may manifest as unexpected autonomic changes. Muscle relaxants may mask seizure activity. Seizures may be the cause of slow emergence from anesthesia and predispose the patient to pulmonary aspiration. Postoperative apneic episodes may be a sign of seizures, and apnea monitoring might be useful. In a case report of anesthesia in a 2-month-old child with the syndrome, no perioperative problems other than a suboptimal view on direct laryngoscopy were reported.

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Be aware of interactions with anticonvulsant drugs. Avoid potentially epileptogenic drugs.

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Encephalocraniocutaneous Lipomatosis: This disease is now considered to be a variant of Proteus syndrome, which is a congenital hamartomatous disorder characterized by partial gigantism (hands and feet, ...

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