Database: OMIM
Entry: 112310
LinkDB: 112310

MIM Entry: 112310
Title:
  #112310 BOOMERANG DYSPLASIA
Text:
  A number sign (#) is used with this entry because of evidence that
  boomerang dysplasia can be caused by mutation in the FLNB gene (603381).
  
  Kozlowski et al. (1981), Tenconi et al. (1983), and Kozlowski et al.
  (1985) each described 1 case of a disorder termed boomerang dysplasia
  because of the unusual shape of the long bones of the legs. All 3
  subjects died in the neonatal period. They had dwarfism with short,
  bowed, rigid limbs and characteristic facies. In particular, the nose
  had a broad root and severe hypoplasia of the nares and septum.
  Radiographically, the radii and fibulae were absent, while the remaining
  long bones had the boomerang configuration. The iliac bodies were small
  and ossification in the lower spine and digits was retarded. All 3
  patients were sporadic males, derived from Japan, Italy, and Australia.
  Winship et al. (1990) described a fourth case, again in a male infant.
  Shortened boomerang-shaped radii, femora, and tibias were noted. The
  vertebral borders showed coronal clefts. The genetic basis of the
  syndrome is unknown. Hunter and Carpenter (1991) described a patient
  with apparent manifestations of both type I atelosteogenesis (108720)
  and boomerang dysplasia and concluded that these disorders are 'part of
  a spectrum, probably reflecting a common etiology.' Greally et al.
  (1993) presented a case that supported the hypothesis of Hunter and
  Carpenter (1991).
  
  Urioste et al. (1997) reported a possible case of boomerang dysplasia in
  the offspring of healthy, nonconsanguineous parents. Delivery was
  induced at 27 weeks of gestation. He was markedly disproportionate with
  a large head, very short and flipper-like limbs, numerous malformations,
  and generalized alopecia. Radiologic skeletal examination showed
  generalized underossification. The pubic bones were absent. Only one
  well-ossified and bowed bone was observed in the legs, which had the
  appearance of a boomerang. Histologic studies showed multinucleated
  giant chondrocytes in the cartilage. The karyotype was apparently
  normal.
  
  Odent et al. (1999) reported a female fetus of 24 weeks' gestation with
  clinical and radiologic features compatible with boomerang dysplasia.
  Histopathology, however, showed unusual lateral fan-shaped diaphyseal
  ossification. Odent et al. (1999) concluded that these features
  represented a variant of boomerang dysplasia with clinical
  characteristics of both atelosteogenesis type I and boomerang dysplasia.
  
  Wessels et al. (2003) reported a male fetus with boomerang dysplasia
  that was diagnosed by ultrasound at 16 weeks of gestation. Delivery was
  induced at 17 weeks of gestation; postdelivery examination revealed
  dwarfism and micromelia of the 4 limbs. In each limb only 1 of the 3
  long tubular bones was ossified; the presumed radius had a boomerang
  shape and the presumed tibia had a segment shape. The hands and feet
  were very short and broad with severe brachydactyly. The ossification
  centers of all vertebrae except for T11-12 and L1-3 were absent. The
  thorax was small and bell-shaped with short ribs. The skull showed
  micrognathia.
  
  MOLECULAR GENETICS
  
  In a 22-week male fetus previously studied by Krakow et al. (2004) and a
  17-week male fetus previously described by Wessels et al. (2003), both
  diagnosed with boomerang dysplasia, Bicknell et al. (2005) identified
  heterozygosity for mutations in the FLNB gene, leu171 to arg (L171R;
  603381.0009) and ser235 to pro (S235P; 603381.0010), respectively.
  
See Also:
  Beighton  (1988)
References:
  1. Beighton, P.: Inherited Disorders of the Skeleton.  London: Churchill
  Livingstone (pub.)  (2nd ed.): 1988. Pp. 99-100.
  
  2. Bicknell, L. S.; Morgan, T.; Bonafe, L.; Wessels, M. W.; Bialer,
  M. G.; Willems, P. J.; Cohn, D. H.; Krakow, D.; Robertson, S. P.:
  Mutations in FLNB cause boomerang dysplasia. J. Med. Genet. 42:
  e43, 2005. Note: Electronic Article.
  
  3. Greally, M. T.; Jewett, T.; Smith, W. L., Jr.; Penick, G. D.; Williamson,
  R. A.: Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis
  I and boomerang dysplasia. Am. J. Med. Genet. 47: 1086-1091, 1993.
  
  4. Hunter, A. G. W.; Carpenter, B. F.: Atelosteogenesis I and boomerang
  dysplasia: a question of nosology. Clin. Genet. 39: 471-480, 1991.
  
  5. Kozlowski, K.; Sillence, D.; Cortis-Jones, R.; Osborn, R.: Boomerang
  dysplasia. Brit. J. Radiol. 58: 369-371, 1985.
  
  6. Kozlowski, K.; Tsuruta, T.; Kameda, Y.; Kan, A.; Leslie, G.: New
  forms of neonatal death dwarfism: report of 3 cases. Pediat. Radiol. 10:
  155-160, 1981.
  
  7. Krakow, D.; Robertson, S. P.; King, L. M.; Morgan, T.; Sebald,
  E. T.; Bertolotto, C.; Wachsmann-Hogiu, S.; Acuna, D.; Shapiro, S.
  S.; Takafuta, T.; Aftimos, S.; Kim, C. A.; and 13 others: Mutations
  in the gene encoding filamin B disrupt vertebral segmentation, joint
  formation and skeletogenesis. Nature Genet. 36: 405-410, 2004.
  
  8. Odent, S.; Loget, P.; Le Marec, B.; Delezoide, A.-L.; Maroteaux,
  P.: Unusual fan shaped ossification in a female fetus with radiological
  features of boomerang dysplasia. J. Med. Genet. 36: 330-332, 1999.
  
  9. Tenconi, R.; Kozlowski, K.; Largaiolli, G.: Boomerang dysplasia:
  a new form of neonatal death dwarfism. Fortschr. Geb. Roentgenstr. 138:
  378-380, 1983.
  
  10. Urioste, M.; Rodriguez, J. I.; Bofarull, J. M.; Toran, N.; Ferrer,
  C.; Villa, A.: Giant-cell chondrodysplasia in a male infant with
  clinical and radiological findings resembling the Piepkorn type of
  lethal osteochondrodysplasia. Am. J. Med. Genet. 68: 342-346, 1997.
  
  11. Wessels, M. W.; Den Hollander, N. S.; De Krijger, R. R.; Bonife,
  L.; Superti-Furga, A.; Nikkels, P. G.; Willems, P. J.: Prenatal diagnosis
  of boomerang dysplasia. Am. J. Med. Genet. 122A: 148-154, 2003.
  
  12. Winship, I.; Cremin, B.; Beighton, P.: Boomerang dysplasia. Am.
  J. Med. Genet. 36: 440-443, 1990.
  
Clinical Synopsis:
  
  Growth:
     Congential dwarfism
  
  Limbs:
     Short, bowed, rigid limbs
  
  Nose:
     Broad nasal root;
     Hypoplastic nares and septum
  
  Misc:
     Neonatal death
  
  Radiology:
     Absent radii and fibulae with boomerang shaped remaining long bones;
     Small iliac bodies;
     Retarded ossification of lower spine and digits
  
  Inheritance:
     Autosomal dominant
  
Contributors: 
  Marla J. F. O'Neill - updated: 9/19/2005
  Marla J. F. O'Neill - updated: 8/24/2005
  Wilson H. Y. Lo - updated: 4/27/2000
  Michael J. Wright - updated: 7/9/1999
  
Creation Date: 
  Victor A. McKusick: 12/9/1989
  
Edit Dates: 
  carol: 01/23/2007
  wwang: 10/5/2005
  terry: 9/19/2005
  carol: 8/24/2005
  carol: 5/3/2000
  terry: 4/27/2000
  jlewis: 7/26/1999
  terry: 7/9/1999
  davew: 7/28/1994
  mimadm: 4/9/1994
  carol: 11/22/1993
  supermim: 3/16/1992
  carol: 9/16/1991
  carol: 8/20/1990
  
OMIM

DBGET integrated database retrieval system