Boomerang Dysplasia

Genetic disorder. A form of lethal neonatal dwarfism in which the long bones have a boomerang shape, resulting in skeletal dysplasia.

Unknown. Approximately eight reported cases worldwide since Kozlowski's first description of the disorder in 1981.

Precise genetics are unknown, but it has been suggested that X-linked recessive inheritance may occur. (There seems to be a male preponderance.) Consanguinity of the parents was not reported in any of the cases.

The mutation seems to affect the FLNB (Filamin Bela) gene located on 3p14.3. FLNB acts primarily on stabilization of action within the cell and as such is involved in enchondral ossification, vertibral segmentation and the formation of joints.

Characteristic clinical features and radiologic abnormalities consistent with the phenotypical description of the syndrome. Demonstration of histologic changes in the bone and cartilage may be an adjunct to clinical diagnosis; however, they may be similar to those seen in atelosteogenesis.

Congenital dwarfism with marked shortness and deformity of all four limbs is the most striking feature of this condition. Defects of the frontal bones in combination with an encephalocele have been reported. The nose has a flat and broad nasal root, a hypoplastic nasal septum and slanted nares. Cleft palate, malar hypoplasia, micrognathia, and short neck have been observed. Radiographically, the long bones may be absent, hypoplastic, or characteristically curved and flat, giving the condition its name boomerang dysplasia. Absent radii and fibulae, hypoplastic ilia, and absent pubic bones are other consistent findings. Retarded ossification of the spine and digits occurs. Boomerang dysplasia is a universally fatal condition; all reported patients died within the first hours of birth.

All patients died within the first hours of birth so they are highly unlikely to present for anesthesia. Standard assessment as for all neonatal cases would apply. Airway management could be difficult (micrognathia, cleft palate, short neck), and premedication with an antisialagogue agent could be helpful.

If airway difficulty is anticipated, either awake fiberoptic tracheal intubation or inhalational induction of anesthesia followed by conventional or fiberoptic tracheal intubation should be considered.

No specific pharmacological considerations.

Chondrodysplasia Giant Cell Type (Atelosteogenesis I): Autosomal dominant inherited, also a lethal form of chondrodysplasia is characterized by rhizomelic limb shortening.

Larsen Syndrome: A congenital dysmorphic syndrome associated with characteristic anomalies of face, hands and feet and multiple congenital dislocations. Spine, airway and cardiac anomalies result in significantly increased perioperative risk.