Hypochondrogenesis

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

The hypochondrogenesis is a very rare congenital disease with characteristic skeletal changes . It is one of the lethal osteochondrodysplasias .

It was first described in 1983 by the pediatrician and geneticist Pierre Maroteaux , Paris.

distribution

The frequency is unknown; the inheritance is autosomal dominant .

root cause

The disease is based on mutations in the COL2A1 gene at location 12q13.11. Achondrogenesis type II and spondyloepiphyseal dysplasia also show changes in this gene, but differ in the extent of the clinical changes (more pronounced in achondrogenesis type II, less pronounced in spondyloepiphyseal dysplasia).

Clinical manifestations

Clinical criteria are:

Severe congenital short stature with a short trunk and short extremities
Disproportionately large head
Death already in the womb or shortly after birth

Changes outside of the skeletal system are rarely found. In a stillbirths were cardiac anomalies and extensive diverticulosis described.

diagnosis

The X-ray image shows:

Missing or delayed ossification of the vertebral bodies with platyspondyly , possibly coronary vertebral body clefts
Short ribs with a narrow thorax ( disproportionate to the abdomen )

Greatly shortened long tubular bones with a normally shaped shaft and broadened metaphyses

Hypoplastic pelvic blades with a horizontal pan roof

The diagnosis can already be recorded intrauterine with the fine ultrasound or with the MRI .

Differential diagnosis

Achondrogenesis, especially type II, and spondyloepiphyseal dysplasia must be differentiated.

literature

P. Freisinger, L. Ala-Kokko, D. LeGuellec, S. Franc, R. Bouvier, P. Ritvaniemi, DJ Prockop, J. Bonaventure: Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes. In: The Journal of Biological Chemistry . Vol. 269, No. 18, May 1994, ISSN 0021-9258 , pp. 13663-13669, PMID 8175802 .
O. Athenstaedt, E. Rupprecht, GK Hinkel, HJ Gaertner, A. Gurski: Contribution to hypochondrogenesis. In: Pediatric Practice. Volume 60, Number 3, May 1992, ISSN 0023-1495 , pp. 86-92, PMID 1614083 .
J. Delgado Carrasco, A. Casanova Morcillo, M. Zabalza Alvillos, A. Ayala Garcés: Acondrogénesis tipo II-hipocondrogénesis. Aspectos radiológicos. In: Anales españoles de pediatría. Volume 55, Number 6, December 2001, ISSN 0302-4342 , pp. 553-557, PMID 11730591 .

Individual evidence

↑ ^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 .
↑ P. Maroteaux, V. Stanescu, R. Stanescu: Hypochondrogenesis. In: European Journal of Pediatrics. Vol. 141, No. 1, October 1983, ISSN 0340-6199 , pp. 14-22, PMID 6641761 .
↑ hypochondrogenesis. In: Orphanet (Rare Disease Database).
↑ hypochondrogenesis. In: Online Mendelian Inheritance in Man . (English)
↑ H. Wainwright, P. Beighton: Visceral manifestations of hypochondrogenesis. In: Virchow's archive: an international journal of pathology. Vol. 453, No. 2, August 2008, ISSN 0945-6317 , pp. 203-207, doi : 10.1007 / s00428-008-0630-9 . PMID 18642028 .
↑ M. Castori, F. Brancati, AC Scanderbeg, B. Dallapiccola: Hypochondrogenesis. In: Pediatric Radiology. Vol. 36, No. 5, May 2006, ISSN 0301-0449 , pp. 460-461, doi : 10.1007 / s00247-005-0068-z . PMID 16432703 .
↑ T. Schramm, KP Gloning, S. Minderer, C. Daumer-Haas, K. Hörtnagel, A. Nerlich, B. Tutschek: Prenatal sonographic diagnosis of skeletal dysplasias. In: Ultrasound in obstetrics & gynecology: the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. Vol. 34, No. 2, August 2009, ISSN 1469-0705 , pp. 160-170, doi : 10.1002 / uog.6359 . PMID 19548204 .
↑ H. Suzumura, T. Kohno, G. Nishimura, H. Watanabe, O. Arisaka: Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report. In: Pediatric Radiology. Vol. 32, No. 5, May 2002, ISSN 0301-0449 , pp. 373-375, doi : 10.1007 / s00247-002-0662-2 . PMID 11956729 .

[Leiber-1] 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] P. Maroteaux, V. Stanescu, R. Stanescu: Hypochondrogenesis. In: European Journal of Pediatrics. Vol. 141, No. 1, October 1983, ISSN 0340-6199 , pp. 14-22, PMID 6641761 .

[Orpha-3] hypochondrogenesis. In: Orphanet (Rare Disease Database).

[4] hypochondrogenesis. In: Online Mendelian Inheritance in Man . (English)

[5] H. Wainwright, P. Beighton: Visceral manifestations of hypochondrogenesis. In: Virchow's archive: an international journal of pathology. Vol. 453, No. 2, August 2008, ISSN 0945-6317 , pp. 203-207, doi : 10.1007 / s00428-008-0630-9 . PMID 18642028 .

[6] M. Castori, F. Brancati, AC Scanderbeg, B. Dallapiccola: Hypochondrogenesis. In: Pediatric Radiology. Vol. 36, No. 5, May 2006, ISSN 0301-0449 , pp. 460-461, doi : 10.1007 / s00247-005-0068-z . PMID 16432703 .

[7] T. Schramm, KP Gloning, S. Minderer, C. Daumer-Haas, K. Hörtnagel, A. Nerlich, B. Tutschek: Prenatal sonographic diagnosis of skeletal dysplasias. In: Ultrasound in obstetrics & gynecology: the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. Vol. 34, No. 2, August 2009, ISSN 1469-0705 , pp. 160-170, doi : 10.1002 / uog.6359 . PMID 19548204 .

[8] H. Suzumura, T. Kohno, G. Nishimura, H. Watanabe, O. Arisaka: Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report. In: Pediatric Radiology. Vol. 32, No. 5, May 2002, ISSN 0301-0449 , pp. 373-375, doi : 10.1007 / s00247-002-0662-2 . PMID 11956729 .