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.
Lethal Type of Brittle Bone Syndrome.
Autosomal recessive inheritance.
Unknown but probably not linked to collagen
Clinically evocated at birth, or before birth in case of
intrauterine growth retardation with fracture.
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.
Evaluate phosphocalcic metabolism.
Evaluate tracheal intubation (clinical, radiographic) and respiratory
function (clinical, chest radiographs, CT scan, pulmonary function tests,
arterial blood gas).
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.
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
Maroteaux P, Cohen-Solal L, Bonaventure J, et al: Lethal syndromes with thin
bones. Arch Fr Pediatr