Genetic disorder. A form of lethal neonatal dwarfism in
which the long bones have a boomerang shape, resulting in skeletal
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
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
No specific pharmacological
Chondrodysplasia Giant Cell Type (Atelosteogenesis I): Autosomal dominant inherited,
also a lethal form of chondrodysplasia is characterized by rhizomelic limb
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.
Bicknell LS, Morgan T, Bonafe L, et al: Mutations in FLNB cause boomerang dysplasia.
J Med Genet 42:e43, 2005.
Kozlowski K, Tsuruta T, Kameda Y, et al: New forms of neonatal death dwarfism.
Report of 3 cases. Pediatr Radiol
Winship I, Cremin B, Beighton P: Boomerang dysplasia. Am J Med Genet