Kampomele dysplasia
| Classification according to ICD-10 | |
|---|---|
| Q87.1 | Congenital malformation syndromes that are predominantly associated with short stature |
| ICD-10 online (WHO version 2019) | |
The campomelic dysplasia , also Kampomeles syndrome , (after ancient Greek καμπυλος kampylos , "bent" δυσ- (dys) 'mis-, un-' and πλάσσειν (plassein) 'form, shape') is a congenital , usually lethal extending skeletal dysplasia with the main characteristics of a bending of the thighs and lower legs (Kampomelia).
The name was coined in 1971 by the Mainz pediatrician Jürgen Spranger and the Parisian pediatrician and geneticist Pierre Maroteaux .
distribution
The inheritance is autosomal dominant .
There is no reliable data on the frequency. The prevalence at birth is given as 1 in 300,000 or 1 in 40,000–80,000.
root cause
The cause is mutations in the SOX9 gene in chromosome region 17q24.
Classification
A distinction is currently made between the following forms:
- Campomelic dysplasia
- Campomelic dysplasia with autosomal sex reversal
- Acampomelic campomelic dysplasia
- Campomelic dysplasia, long-limb form
- Campomelic dysplasia, short-limb form
- Campomelic dysplasia, short-limb form with clover-leaf skull
- Campomelic dysplasia, mild, synonym: Skeletal Dysplasia related to campomelic dysplasia
Clinical manifestations
Clinical criteria are:
- Facial dysmorphism, flat nasal root, micrognathia , cleft palate, dolichocephaly
- Short stature , bending of the lower legs, clubfoot , hip dislocation
- Often polyhydramnios
- Children are stillborn or die shortly after birth
- Survivors with chronic respiratory problems
- Genital malformation , hypospadias , intersexual genitalia, complete sex reversal in two-thirds of male newborns
- Only 11 pairs of ribs
diagnosis
There are characteristic signs in the X-ray image :
- Curvature with angulation in the middle of the diaphyseal bone of the femur , tibia and fibula
- Hypoplasia of the lateral processes of the vertebral bodies and shoulder blades
- Kyphosis of the cervical spine
- Lack of ossification of the pubic bone , pear-shaped shape of the ilium , enlarged acetabular roof angle of the hip joint
- Stenosis or hypoplasia of the larynx and / or windpipe
Further, pulmonary and ureteral stenosis added.
A suspected prenatal diagnosis is possible using fine ultrasound .
The diagnosis can be made by genetic diagnostics e.g. B. be secured by amniocentesis , chorionic villus sampling or newer procedures.
Prospect of healing
Affected children often die of respiratory insufficiency shortly after birth . About 5–10% survive.
Complications can include kyphoscoliosis , repeated respiratory infections , hearing loss , learning difficulties, short stature and hip dislocation .
history
It was first described by John Caffey (1895–1978).
literature
- A. Khajavi, R. Lachman, D. Rimoin, RN Schimke, J. Dorst, S. Handmaker, A. Ebbin, G. Perreault: Heterogeneity in the campomelic syndromes. Long-and short-bone varieties. In: Radiology. Vol. 120, No. 3, September 1976, pp. 641-647, doi: 10.1148 / 120.3.641 , PMID 948600 .
- Sheila Unger, Gerd Scherer, Andrea Superti-Furga: GeneReviews (®) . Ed .: Roberta A. Pagon, Margaret P. Adam, Holly H. Ardinger, Stephanie E. Wallace, Anne Amemiya, Lora JH Bean, Thomas D. Bird, Chin-To Fong, Heather C. Mefford, Richard JH Smith, Karen Stephens. University of Washington, Seattle, Seattle WA January 1, 1993, Campomelic Dysplasia, PMID 20301724 .
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, J. Spranger, JM Opitz, J. Kucera, RB Lowry, RN Schimke, SM Kagan: Le syndrome campomélique. In: La Presse médicale. Vol. 79, No. 25, May 1971, pp. 1157-1162, PMID 5555980 .
- ↑ a b c d e Kampomele dysplasia. In: Orphanet (Rare Disease Database).
- ↑ GeneReviews
- ↑ CMPD. In: Online Mendelian Inheritance in Man . (English)
- ↑ Camptomelic Syndrome, Long-Limb Type. In: Online Mendelian Inheritance in Man . (English)
- ↑ Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies. In: Online Mendelian Inheritance in Man . (English)
- ↑ K. Ebel, E. Willich, E. Richter (Eds.): Differentialdiagnostik in der Pediatric Radiologie. Thieme 1995, ISBN 3-13-128101-4 .
- ↑ 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. Volume 34, No. 2, August 2009, pp. 160-170, doi: 10.1002 / uog.6359 , PMID 19548204 .
- ^ J. Caffey: Prenatal bowing and thickening of tubular bones, with multiple cutaneous dimples in arms and legs; a congenital syndrome of mechanical origin. In: American journal of diseases of children (1911). Vol. 74, No. 5, November 1947, pp. 543-562, PMID 18918277 .
