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