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A lethal form of chondrodysplasia characterized by rhizomelic limb shortening with giant cell chondrodysplasia.

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Atelosteogenesis type I; Spondylohumerofemoral Hypoplasia.

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Extremely rare congenital disease (approximately 10 cases have been described), isolated cases only.

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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.

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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.

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Thanatophoric Dwarfism: Severe form of micromelic dwarfism with narrow thorax. Death generally occurs in the first hours of life.

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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 47:1086, 1993.  [PubMed: 8291529]
Sillence DO, Lachman RS, Jenkins T, et al: Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): A neonatally lethal short-limb skeletal dysplasia. Am J Med Genet 13:7, 1982.  [PubMed: 6753583]
Yang SS, Roskamp J, Liu CT, et al: Two lethal chondrodysplasias with giant chondrocytes. Am J Med Genet 15:615, 1983.  [PubMed: 6614049]

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