Boomerang dysplasia

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Classification according to ICD-10
Q68.5 Congenital curvature of the long bones of the leg, unspecified
Q87.1 Congenital malformation syndromes that are predominantly associated with short stature
ICD-10 online (WHO version 2019)

The Boomerang dysplasia is a very rare congenital disease with severe bone involvement. It belongs to the lethal running skeletal dysplasias .

The name refers to the unusual deformation mainly of the thighbones and was first used in 1983 in a report by the Italian pediatric radiologist A. Tenconi .

Spread and cause

  • To date, only about 10 patients have been reported who died in the neonatal period.
  • The disease is based on mutations in the FLNB gene at location 3p14.3.

Clinical manifestations

Clinical criteria are:

  • Disproportionate short stature already at birth, relatively large head, short trunk, extremely short limbs
  • Facial abnormalities, broad forehead, retracted nasal root, hypoplasia of the nostrils and nasal septum, hypertelorism , microgenius
  • Significantly shortened, bent and stiff limbs

diagnosis

The x-ray shows ossification disorders of the long bones with partially missing bones, often also ossification disorders of the vertebral bodies.

A prenatal diagnosis is possible with fine ultrasound .

Differential diagnosis

It is assumed that boomerang dysplasia belongs to the same spectrum of diseases as atelosteogenesis.

The diseases affecting the FLNB gene also include spondylo-carpo-tarsal synostosis and Larsen syndrome .

history

The first description comes from 1977 by the American M. Piepkorn .

As early as 1966, the term “boomerang disease” was used for a mesomelic dysplasia type Reinhardt-Pfeiffer , but remained uncommon.

literature

  • K. Kozlowski, T. Tsuruta, Y. Kameda, A. Kan, G. Leslie: New forms of neonatal death dwarfism. Report of 3 cases. In: Pediatric radiology. Vol. 10, No. 3, February 1981, ISSN  0301-0449 , pp. 155-160, PMID 7194471 .
  • K. Kozlowski, D. Sillence, R. Cortis-Jones, R. Osborn: Boomerang dysplasia. In: The British journal of radiology. Volume 58, Number 688, April 1985, ISSN  0007-1285 , pp. 369-371, doi: 10.1259 / 0007-1285-58-688-369 , PMID 4063680 .
  • S. Tsutsumi, A. Maekawa, M. Obata, T. Morgan, SP Robertson, H. Kurachi: A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging. In: Fetal diagnosis and therapy. Volume 32, number 3, 2012, ISSN  1421-9964 , pp. 216-220, doi: 10.1159 / 000335687 , PMID 22354125 .

Individual evidence

  1. ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ R. Tenconi, K. Kozlowski, G. Largaiolli: Boomerang dysplasia. A new form of neonatal death dwarfism. In: RöFo: Advances in the field of X-rays and nuclear medicine. Vol. 138, No. 3, March 1983, ISSN  1438-9029 , pp. 378-380, PMID 6403439 .
  3. ↑ a b c Boomerang dysplasia. In: Orphanet (Rare Disease Database).
  4. ↑ a b Boomerang dysplasia.  In: Online Mendelian Inheritance in Man . (English)
  5. ^ MW Wessels, NS Den Hollander, RR De Krijger, L. Bonifé, A. Superti-Furga, PG Nikkels, PJ Willems: Prenatal diagnosis of boomerang dysplasia. In: American journal of medical genetics. Part A. Vol. 122A, No. 2, October 2003, ISSN  1552-4825 , pp. 148-154, doi: 10.1002 / ajmg.a.20239 , PMID 12955767 .
  6. ^ Hunter group, Carpenter BF: Atelosteogenesis I and boomerang dysplasia: a question of nosology. In: Clinical genetics. Vol. 39, No. 6, June 1991, ISSN  0009-9163 , pp. 471-480, PMID 1863996 (review).
  7. ^ Gene Reviews
  8. ↑ M. Piepkorn, LE Karp, D. Hickok, L. Wiegenstein, JG Hall: A lethal neonatal dwarfing condition with short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect. In: Teratology. Vol. 16, No. 3, December 1977, ISSN  0040-3709 , pp. 345-350, doi: 10.1002 / tera.1420160315 , PMID 594914 .
  9. ^ B. Reeves: Boomerang bone disease: bilateral dysplasia of ulna and fibula. In: Proceedings of the Royal Society of Medicine. Vol. 59, No. 8, August 1966, ISSN  0035-9157 , pp. 711-712, PMID 5911429 , PMC 1901108 (free full text).