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At a Glance

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A rare polymalformative syndrome characterized by a triangular-shaped head that is already present at birth, combined with cardiac, digestive, and skeletal anomalies.

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Synonyms

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Opitz Trigonocephaly Syndrome; Trigonocephaly “C” Syndrome; Trigonocephaly Syndrome. (“C” in the name of this syndrome refers to the initial of one of the first patients originally described by Opitz).

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History

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First described in 1969 by J.M. Opitz, a contemporary German-American geneticist.

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Incidence

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Approximately 40 cases have been described in the literature.

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Genetic Inheritance

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Most likely autosomal recessive inheritance.

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Pathophysiology

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Unknown; malformation of the head is a result of premature union of the skull bones.

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Diagnosis

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Based on clinical findings of skull malformation combined with peculiar facies (narrow, pointed forehead, flat and broad nasal bridge with a short nose, epicanthus) and multiple cardiac, digestive, and skeletal anomalies.

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Clinical Aspects

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These patients present with short stature, skin laxity, and failure to thrive (generalized hypotonia and poor sucking reflex). The main features involve the head and neck (short neck, trigonocephaly, biparietal widening of the head, metopic craniosynostosis, microcephaly, agenesis of the corpus callosum, micrognathia, low-set and posteriorly rotated ears, epicanthal folds, upward slanted palpebral fissures, strabismus, anteverted nares, flat and broad nasal bridge, short nose, high arched and deeply furrowed palate, oral frenula, thick anterior alveolar ridges, macrostomia); the central nervous system (hypotonia, seizures, psychomotor retardation); the heart (tetralogy of Fallot, ventricular septal defect, patent ductus arteriosus, Eisenmenger syndrome); the lungs (abnormal segmentation of the lungs); the gastrointestinal system (visceral angiomatosis, omphalocele, hepatomegaly); the genitourinary tract (prominent clitoris and labia majora, cryptorchidism, renal cortical cysts, hydronephrosis); and the skeleton (hyperextensible joints, fused sternal ossification centers, scoliosis, anomalous ribs, radial head dislocation, postaxial polydactyly, clinodactyly, terminal transverse limb reduction, metacarpal hypoplasia, hip dislocation). Clotting disorders and abnormally placed nipples are frequent findings. Approximately half of the patients die within the first year of life.

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Precautions before Anesthesia

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Evaluate neurologic function (clinically, electroencephalography, computed tomography scanning, and/or magnetic resonance imaging). Check cardiac function (clinically, echocardiography, chest radiography, electrocardiography, and/or cardiac catheterization if necessary). Assess for signs of difficult airway management and evaluate respiratory function secondary to anomalies of the chest, skeleton, and abdominal muscles (clinically, pulmonary function test, chest radiography, and arterial blood gases analysis). Check kidney and liver function (clinically, sonography, laboratory tests). Preoperative laboratory investigation should include a complete blood count, electrolytes, creatinine, blood urea nitrogen, and coagulation tests. Postoperative mechanical ventilation may be necessary and should be arranged in advance.

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Anesthetic Considerations

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Airway management may be difficult due to micrognathia and short neck and may require adapted anesthetic techniques such as primary fiberoptic tracheal intubation or ...

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