A lethal form of chondrodysplasia characterized by
rhizomelic limb shortening with giant cell chondrodysplasia.
Atelosteogenesis type I; Spondylohumerofemoral
Extremely rare congenital
disease (approximately 10 cases have been described), isolated cases only.
The diagnosis is made based on the clinical findings
of micromelic dwarfism (distal hypoplasia of the humeri and femora),
hypoplasia of the midthoracic spine, histology results (multiple degenerated
chondrocytes that are encapsulated in fibrous tissue; resting cartilage appears
intact, but hypocellular areas with multinucleated chondrocytes are
interspersed with areas of normal cellularity), and radiologic signs. All
reported cases have been stillborn or died soon after birth secondary to
respiratory failure. Clinical features involve head and neck (facial
hemangiomas, frontal bossing, prominent globes, edematous eyelids, depressed
nasal bridge, nose and midface hypoplasia, micrognathia, cleft palate, short
neck), the airway (laryngeal stenosis, small tunnel chest, missing ribs),
the limbs (distal humeral and femoral hypoplasia, knee/elbow subluxation,
talipes equinovarus, hypoplastic/absent fibulae, bowed radius/fibulae,
phalangeal mineralization defects), and the axial skeleton (cervical fusion
of vertebrae, midthoracic spine hypoplasia with platyspondyly, sagittal and
coronal clefting). Encephaloceles have been reported.
Anesthesia in this condition has not
been described. Cervical vertebral fusion and the facial features make
airway management potentially difficult. The presence of laryngeal stenosis
suggests that a smaller endotracheal tube may be required. Vascular access
may be difficult.
Thanatophoric Dwarfism: Severe form of micromelic dwarfism with narrow
thorax. Death generally occurs in the first hours of life.
Diastrophic Dysplasia: An autosomal recessive inherited form of
short-limb dwarfism associated with spine anomalies.
Greally MT, Jewett T, Smith WL, et al: Lethal bone dysplasia in a fetus with
manifestations of atelosteogenesis I and boomerang dysplasia. Am J Med Genet
Sillence DO, Lachman RS, Jenkins T, et al: Spondylohumerofemoral
hypoplasia (giant cell chondrodysplasia): A neonatally lethal short-limb
skeletal dysplasia. Am J Med Genet
Yang SS, Roskamp J, Liu CT, et al: Two lethal chondrodysplasias with giant
chondrocytes. Am J Med Genet