Chondrodysplasia punctata type Sheffield

Classification according to ICD-10
Q77.3	Chondrodysplasia Punctate Syndromes
ICD-10 online (WHO version 2019)

The chondrodysplasia punctata type Sheffield is a congenital form of skeletal dysplasia , characterized by facial changes and symmetrical calcifications on hands and feet.

Synonyms are: Chondrodysplasia punctata, autosomal dominant

The name refers to a publication in 1976 by the Australian pediatrician Leslie J. Sheffield and colleagues.

Clinical manifestations

Clinical criteria are:

Flat wide bridge of the nose, obstructed nasal breathing
Moderately proportioned short stature
Failure to thrive in childhood
Mental developmental delay

Occasionally there is postaxial polydactyly .

Investigation methods

The x-ray shows symmetrical calcifications on the hands and feet as well as paravertebral. Pointed calcifications around the heel bone are largely a specific criterion.

diagnosis

The characteristic face is groundbreaking, the radiological changes confirm the diagnosis.

Differential diagnosis

The other forms of chondrodysplasia punctata are to be distinguished , in particular the likewise dominantly inherited chondrodysplasia punctata, tibial-metacarpal type .

Prospect of healing

The child's growth and development retardation largely normalizes until the end of growth, while the facial abnormality persists.

history

As early as 1947, the American orthopedic surgeons Theodore Vinke and Paul Duffy published the clinical picture under the name Chondrodystrophia calcificans congenita .

literature

AM Norman, S. Jivani, HM Kingston: Chondrodysplasia punctata: further evidence of heterogeneity. In: Clinical dysmorphology. Volume 1, No. 3, July 1992, ISSN 0962-8827 , pp. 161-164, PMID 1342864 .

Web links

Chondrodysplasia punctata type Sheffield. In: Orphanet (Rare Disease Database).
Right diagnosis
Checkorphan

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 .
↑ Chondrodysplasia punctata, Sheffield type. In: Online Mendelian Inheritance in Man . (English)
↑ ^a ^b ^c ^d L. J. Sheffield, DM Danks, V. Mayne, AL Hutchinson: Chondrodysplasia punctata-23 cases of a mild and relatively common variety. In: The Journal of Pediatrics . Vol. 89, No. 6, December 1976, ISSN 0022-3476 , pp. 916-923, PMID 993917 .
^ TH Vinke, FP Duffy: Chondrodystrophia calcificans congenita; report of two cases. In: The Journal of Bone & Joint Surgery . Volume 29, No. 2, April 1947, ISSN 0021-9355 , pp. 509-514, PMID 20240212 .

[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] Chondrodysplasia punctata, Sheffield type. In: Online Mendelian Inheritance in Man . (English)

[Sheffield-3] L. J. Sheffield, DM Danks, V. Mayne, AL Hutchinson: Chondrodysplasia punctata-23 cases of a mild and relatively common variety. In: The Journal of Pediatrics . Vol. 89, No. 6, December 1976, ISSN 0022-3476 , pp. 916-923, PMID 993917 .

[4] TH Vinke, FP Duffy: Chondrodystrophia calcificans congenita; report of two cases. In: The Journal of Bone & Joint Surgery . Volume 29, No. 2, April 1947, ISSN 0021-9355 , pp. 509-514, PMID 20240212 .