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Severe congenital genetic disease characterized by undermineralization of skull and bones, thin ribs, thoracic collapse, multiple fractures, short stature, and prenatal onset. It is not believed to be linked to collagen metabolism defects. Facies is peculiar.

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Lethal Type of Brittle Bone Syndrome.

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Autosomal recessive inheritance.

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Unknown but probably not linked to collagen metabolism.

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Clinically evocated at birth, or before birth in case of intrauterine growth retardation with fracture.

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Bone anomalies include multiple fractures, asymmetry of the body, abnormal ossification. Skeletal deformations concern head and face with unusual Larsen-like facies, including high forehead, microstoma, hypertelorism, flat supraorbital ridges, anteverted nares, broad nasal root, and small nose. Limbs are involved with pes talus, metaphyseal enlargement, overlapping fingers. Other features concern spleen and metabolism anomalies. Respiratory distress is often observed because of thin chest and frequent and multiple ribs fractures.

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Evaluate phosphocalcic metabolism. Evaluate tracheal intubation (clinical, radiographic) and respiratory function (clinical, chest radiographs, CT scan, pulmonary function tests, arterial blood gas).

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Direct laryngoscopy and tracheal intubation can be difficult because of microstoma and is always dangerous to perform because of the risk of fracture. Perioperative respiratory monitoring should be useful because of frequency of respiratory distress. Cautious intraoperative positioning is needed because of skeletal deformation.

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Avoid succinylcholine because the risk of fractures during fasciculation.

Bonaventure J, Zylberberg L, Cohen-Solal L, et al: A new lethal brittle bone syndrome with increased amount of type V collagen in a patient. Am J Med Genet 33:299, 1989.  [PubMed: 2478018]
Maroteaux P, Cohen-Solal L, Bonaventure J, et al: Lethal syndromes with thin bones. Arch Fr Pediatr 45:477, 1988.  [PubMed: 3060039]

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