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Form of osteogenesis imperfecta with persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae, and camptomelia.

This disease is considered part of the large osteogenesis imperfecta family. However, because it could not be precisely categorized, Maclean called it by the family name of the first patient described.

Only three cases of the same family that gave the name to this syndrome have been described. Probably autosomal dominant inheritance.

Patients present with short stature. Features involve head (blue sclera, frontal bossing, large fontanels with delayed closure, wormian bones, brachycephaly, poorly ossified skull, facial structural asymmetry with flat large face, depressed nasal bridge, high vaulted and narrow palate, micrognathia/retrognathia, and malocclusion) and skeleton (cortical hyperostosis, joint dislocation with hyperextensible knees, shoulder and wrist dislocation, bowed femur, tibia and clavicles, clubfoot, talipes-varus, narrow rib cage, sloping shoulders with scapula anomaly, pelvis anomaly). Hypotonia can occur.

Evaluate tracheal intubation that could be difficult because of facial malformations and may require adapted anesthetic techniques. Careful intraoperative positioning is required to avoid dislocations. Evaluate respiratory function (clinical, chest radiographs, CT, pulmonary function tests, and arterial blood gas analysis). Postoperative ventilatory support should be available.

Osteogenesis Imperfecta: Group of disorders affecting the connective tissue, characterized by brittle bones, often fracturing without apparent cause. Four main types of osteogenesis imperfecta (OI) have been identified. OI type I is the most common and the mildest form of the disorder. OI type II is the most severe form. In most cases, the various forms of osteogenesis imperfecta are inherited as autosomal dominant traits.

Maclean JR, Lowry RB, Wood BJ: The Grant syndrome: Persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and camptomelia—An autosomal dominant trait. Clin Genet 29:523, 1986.  [PubMed: 3742858]

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