Torrance platyspondylitic dysplasia

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Classification according to ICD-10
Q77.8 Other osteochondrodysplasias with growth disorders of the long bones and the spine
ICD-10 online (WHO version 2019)

The Platyspondylitische dysplasia Torrance is a very rare congenital skeletal dysplasia with the main feature of a platyspondyly .

Synonyms are: PLSD-T; Platyspondylitic dysplasia Torrance-Luton type; Skeletal platyspondylitic dysplasia, lethal, Torrance type; English LETHAL SHORT-LIMBED LATYSPONDYLIC DWARFISM, TORRANCE TYPE; THANATOPHORIC DYSPLASIA, TORRANCE VARIANT

A distinction must be made between platyspondylitic dysplasia, type San Diego , see. under thanatophoric dysplasia .

distribution

The frequency is unknown; the inheritance is autosomal dominant .

root cause

The disease is based on mutations in the COL2A1 gene at gene location 12q13.11, which is involved in a large number of skeletal dysplasias. Fewer than ten mutations in the COL2A1 gene have been identified with platyspondylitic dysplasia type Torrance. Most of these mutations are caused by single nucleotide polymorphisms in the pro-alpha1 (II) chain. These COL2A1 mutations lead to an abnormal variant of a pro-alpha1 (II) chain which cannot be integrated into type II collagen fibrils. As a result, the cells produce less type II collagen. The abnormal pro-alpha1 (II) chain continues to build up in cartilage cells (chondrocytes). As a result, bone development is disturbed, resulting in skeletal abnormalities.

Clinical manifestations

Clinical criteria are:

The diagnosis can be made intrauterine .

forecast

PLSD-T is usually fatal, but patients in two families reached adulthood.

Differential diagnosis

The following are to be distinguished from the differential diagnosis:

literature

  • G. Nishimura, E. Nakashima, A. Mabuchi, K. Shimamoto, T. Shimamoto, Y. Shimao, T. Nagai, T. Yamaguchi, R. Kosaki, H. Ohashi, Y. Makita, S. Ikegawa: Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. In: Journal of Medical Genetics . Vol. 41, No. 1, January 2004, pp. 75-79, PMID 14729840 , PMC 1757240 (free full text).
  • HJ van der Harten, JT Brons, PF Dijkstra, PG Barth, MF Niermeyer, CJ Meijer, HP van Geijn, NF Arts: Some variants of lethal neonatal short-limbed platyspondylic dysplasia: a radiological ultrasonographic, neuropathological and histopathological study of 22 cases. In: Clinical dysmorphology. Vol. 2, No. 1, January 1993, pp. 1-19, PMID 8298733 .

Individual evidence

  1. ↑ a b c d Orphanet dysplasia, platyspondylitic, Torrance type
  2. ↑ COLLAGEN, TYPE II, ALPHA-1.  In: Online Mendelian Inheritance in Man . (English)
  3. ↑ 151210 PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE.  In: Online Mendelian Inheritance in Man . (English)
  4. ^ Researchgate
  5. ^ S. Tamaru, A. Kikuchi, K. Takagi, M. Wakamatsu, K. Ono, T. Horikoshi, G. Nishimura: Prenatal diagnosis of platyspondylic skeletal dysplasia Torrance type with three-dimensional helical computed tomography. In: Prenatal Diagnosis . Vol. 29, No. 13, December 2009, pp. 1282-1284, doi: 10.1002 / pd.2406 , PMID 19911416 .
  6. ^ L. Neumann, J. Kunze, M. Uhl, B. Stöver, B. Zabel, J. Spranger: Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type. In: Pediatric radiology. Vol. 33, No. 11, November 2003, pp. 786-790, doi: 10.1007 / s00247-003-1055-x , PMID 12961049 (review).

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