Diastrophic dysplasia

Classification according to ICD-10
Q77.5	Diastrophic dysplasia
ICD-10 online (WHO version 2019)

The diastrophic dysplasia , Diastropher dwarfism or Diastrophischer dwarfism is a rare congenital disease with the main characteristic of dwarfism , short limbs and joint deformities. It belongs to the skeletal dysplasias .

It was first described in 1960 by the French pediatricians and human geneticists Maurice Lamy (1895–1975) and Pierre Maroteaux (* 1928).

distribution

The frequency is given as 1–9 in 100,000, inheritance is autosomal - recessive .

root cause

The disease is based on homozygous mutations in the SLC26A2 gene at location 5q32, which codes for a sulfate transporter mainly found in cartilage . At the same point there should also be changes in a variant with wide bones and platyspondyly (BROAD BONE-PLATYSPONDYLIC VARIANT).

Clinical manifestations

Clinical criteria are:

Disproportionate short stature
Short extremities
Often progressive kyphoscoliosis
Height of the adult at 80-140 cm
Multiple joint contractures of the shoulder, elbows, fingers, and hip joints
Proximally splayed and hyperextensible thumb
Club feet
Cyst tumors in the ear cartilage in the neonatal period with cauliflower-like expansion of the auricle
Often cleft palate and hypoplasia of the lower jaw

However, the degree of severity of the clinical changes is very variable, sometimes the symptoms are minor, so that the diagnosis is made late.

diagnosis

A prenatal diagnosis using ultrasound (clubfoot, short limbs) is possible.

The diagnosis results from the x-ray with shortened metaphyseally distended tubular bones, flat epiphyses , oval deformation of the MC I. The vertebral bodies are less and irregularly deformed. Subluxation of the thumb "hitchhiker thumb", kyphosis of the cervical spine with subluxation of the cervical vertebrae

Radiological criteria are:

Broadened metaphyses with bifurcation on the femur and distal radius
Hammerhead configuration of the proximal femoral metaphysis
Delayed onset of head nucleus formation
Very short femoral neck
Pin epiphyses in the distal femur possible
Metacarpal Hypoplasia I.
Cervical kyphosis with impairment of the spinal cord

Differential diagnosis

Must be distinguished is the Pseudodiastrophische dysplasia that Platyspondylitische dysplasia Torrance against the Broad bone Platyspondylic Variant and atelosteogenesis .

therapy

The treatment is aimed at kyphosis of the cervical spine and thoracic scoliosis with, if necessary, surgical correction of joint contractures and foot deformities.

literature

C. Tennstedt, S. Bartho, R. Bollmann, A. Schwenke, I. Nitz, K. Rothe: Osteochondrodysplasias. Prenatal diagnosis and pathological-anatomical findings. In: Zentralblatt für Pathologie. Vol. 139, No. 1, March 1993, pp. 71-80, PMID 8499423 .

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 .
↑ ^a ^b ^c ^d ^e Diastrophic dysplasia. In: Orphanet (Rare Disease Database).
↑ M. LAMY, P. MAROTEAUX: Le nanisme diastrophique. In: La Presse médicale. Vol. 68, November 1960, pp. 1977-1980, PMID 13758600 .
↑ A. Mégarbané, FA Haddad, S. Haddad-Zebouni, M. Achram, G. Eich, M. Le Merrer, A. Superti-Furga: Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. In: Clinical genetics. Vol. 56, No. 1, July 1999, pp. 71-76, PMID 10466420 .
^ Diastrophic Dysplasia. In: Online Mendelian Inheritance in Man . (English)
^ JC Honório, RF Bruns, LF Gründtner, S. Raskin, LP Ferrari, E. Araujo Júnior, LM Nardozza: Diastrophic dysplasia: prenatal diagnosis and review of the literature. In: São Paulo medical journal = Revista paulista de medicina. Vol. 131, No. 2, 2013, pp. 127-132, PMID 23657516 (review).
↑ MJ Canto, M. Buixeda, J. Palau, F. Ojeda: Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history. In: Prenatal diagnosis. Vol. 27, No. 10, October 2007, pp. 976-978, doi: 10.1002 / pd.1800 , PMID 17602446 (review).
↑ W. Schuster, D. Färber (editor): Children's radiology. Imaging diagnostics. Vol. 1, p. 332, Springer 1996, ISBN 3-540-60224-0 .
↑ T. Kausch, J. Rütt, U. Burck-Lehmann: The treatment of foot deformity in diastrophic dysplasia - a case description. In: Journal for orthopedics and their border areas. Vol. 132, No. 5, 1994 Sep-Oct, pp. 420-423, doi: 10.1055 / s-2008-1039847 , PMID 7985403 .

[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 .

[Orpha-2] Diastrophic dysplasia. In: Orphanet (Rare Disease Database).

[3] M. LAMY, P. MAROTEAUX: Le nanisme diastrophique. In: La Presse médicale. Vol. 68, November 1960, pp. 1977-1980, PMID 13758600 .

[4] A. Mégarbané, FA Haddad, S. Haddad-Zebouni, M. Achram, G. Eich, M. Le Merrer, A. Superti-Furga: Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. In: Clinical genetics. Vol. 56, No. 1, July 1999, pp. 71-76, PMID 10466420 .

[5] Diastrophic Dysplasia. In: Online Mendelian Inheritance in Man . (English)

[6] JC Honório, RF Bruns, LF Gründtner, S. Raskin, LP Ferrari, E. Araujo Júnior, LM Nardozza: Diastrophic dysplasia: prenatal diagnosis and review of the literature. In: São Paulo medical journal = Revista paulista de medicina. Vol. 131, No. 2, 2013, pp. 127-132, PMID 23657516 (review).

[7] MJ Canto, M. Buixeda, J. Palau, F. Ojeda: Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history. In: Prenatal diagnosis. Vol. 27, No. 10, October 2007, pp. 976-978, doi: 10.1002 / pd.1800 , PMID 17602446 (review).

[8] W. Schuster, D. Färber (editor): Children's radiology. Imaging diagnostics. Vol. 1, p. 332, Springer 1996, ISBN 3-540-60224-0 .

[9] T. Kausch, J. Rütt, U. Burck-Lehmann: The treatment of foot deformity in diastrophic dysplasia - a case description. In: Journal for orthopedics and their border areas. Vol. 132, No. 5, 1994 Sep-Oct, pp. 420-423, doi: 10.1055 / s-2008-1039847 , PMID 7985403 .