Achondrogenesis type IA

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Classification according to ICD-10
Q77.0 Achondrogenesis
ICD-10 online (WHO version 2019)

The Achondrogenesis type IA or type Houston-Harris is a sub-form of Achondrogenesis , a lethal extending skeletal dysplasia with lack of enchondral ossification .

The disease was described in 1972 by the Canadian pediatrician C. Stuart Houston and the British geneticist R. Harris .

frequency

The frequency is not known.

Inheritance mode

The inheritance is done with autosomal - recessive inheritance.

root cause

It is based on a mutation in the TRIP11 gene at location 14q32.12

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

Rib fractures are common.

Diagnosis

The x-ray shows a characteristic strongly delayed or absent ossification of the vertebral bodies and the pelvic bones, extremely shortened tubular bones, jagged delimitation of the femur , very thin ribs with distended ends.

Differential diagnostics

As other forms of achondrogenesis, achondrogenesis type IB and achondrogenesis type II as well as osteogenesis imperfecta type II are to be distinguished .

literature

Individual evidence

  1. ↑ C. Stuart Houston, CF Awen, HP Kent: Fatal neonatal dwarfism. In: Journal of the Canadian Association of Radiologists. Vol. 23, No. 1, March 1972, pp. 45-61, ISSN  0008-2902 . PMID 5063132 .
  2. ^ R. Harris, JT Patton, AJ Barson: Pseudo-achondrogenesis with fractures. In: Clinical genetics. Vol. 3, No. 6, 1972, pp. 435-441, ISSN  0009-9163 . PMID 4568361 .
  3. ↑ Achondrogenesis type IA. In: Orphanet (Rare Disease Database).
  4. ↑ Achondrogenesis type IA.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ 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
  6. ↑ K. Ebel, E. Willich, E. Richter (Eds.): Differentialdiagnostik in der Pediatric Radiologie. Thieme 1995, ISBN 3-13-128101-4 .