Achondrogenesis type II
Classification according to ICD-10 | |
---|---|
Q77.0 | Achondrogenesis |
ICD-10 online (WHO version 2019) |
The Achondrogenesis type II or type Langer-Saldino is a sub-form of Achondrogenesis , a lethal extending skeletal dysplasia with lack of enchondral ossification .
The disease was described in 1969 by the US radiologist Leonard O. Langer and in 1971 by Ronald M. Saldino .
frequency
The frequency is not known.
Inheritance mode
In this form there is (theoretically) an autosomal dominant inheritance with a mutation in the COL2A1 gene at location 12q13.11. However, there is de facto no inheritance, since the affected individuals usually die after a few days of life, so this disease only arises from new mutations.
Clinical manifestations
Diagnostic criteria are:
- Severe congenital short stature with stubby limbs and a short trunk
- The children are stillborn or die in the first days of life
Diagnosis
The x-ray shows a characteristically greatly delayed or absent ossification of the vertebral bodies, the seat and pubic bones, short ribs without fractures, strongly shortened tubular bones with a shaft that can still be clearly defined.
Differential diagnostics
The other forms of achondrogenesis type IA , achondrogenesis type IB , osteogenesis imperfecta type II and hypochondrogenesis are to be distinguished .
literature
- JW Spranger: Bone Dysplasias. Urban & Fischer 2002, ISBN 3-437-21430-6 .
Individual evidence
- ^ LO Langer, JW Spranger, I. Greinacher, RC Herdman: Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia. In: Radiology. Vol. 92, No. 2, February 1969, pp. 285-294. passim ISSN 0033-8419 . doi: 10.1148 / 92.2.285 . PMID 4885523 .
- ↑ RM Saldino: Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism. In: The American journal of roentgenology, radium therapy, and nuclear medicine. Vol. 112, No. 1, May 1971, pp. 185-197, ISSN 0002-9580 . PMID 5582025 .
- ↑ Who named it
- ^ Achondrogenesis type II. In: Orphanet (database for rare diseases).
- ^ Achondrogenesis type II. In: Online Mendelian Inheritance in Man . (English)
- ↑ a b B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg, 1990, ISBN 3-541-01727-9 .