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Results for “CHONDRODYSTROPHIA CALCIFICANS CONGENITA”

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At least 19 recordsLinked to original sources

Ultrastructural aspects of chondrodystrophia calcificans congenita (syndrome of Conradi-Hünermann).

An ultrastructural study of chondrodystrophia calcificans congenita is reported. Foci of initial calcification of cartilage are characterized by coexistence of three different types of crystals, probably due to abnormal proteoglycan composition of cartilage matrix. The calcification process in chondrodystrophia calcificans congenita is apparently not related to 'matrix vesicles' as it is in normal cartilage.

Calcinosis↗

Neutrophyl function in children with chondrodystrophia calcificans congenita: evidence for defective chemotaxis.

Some neutrophil functions (superoxide anion production, bactericidal activity and chemotaxis) have been examined in four children with Chondrodystrophia Calcificans Congenita. Superoxide anion production and bactericidal activity were in the normal range, but a defect in cellular chemotaxis has been proved. This finding account for predisposition to infection which is frequently present in these patients, and may include this disease among those syndromes in which a deficiency of the immune system is associated with growth failure.

Blood Bactericidal Activity↗

[Micromelia symptomatology and chondrodystrophia calcificans congenita].

The author made a report progress on micromelia symptom on the occasion of a 51 years old patient. It was ascertained that: 146 cm body height with disproportion between trunk and extremities, marked small hands and feet, with positional anomaly of the fingers (clinodaktylia) and toes; calcifications in intraarticular and paraarticular regions particularly in articulation metacarpo- and metatarso-phalangeae; adiposis. The case is interpreted as chondrodystrophia calcificans congenita. The persistent micromelia symptom probable is influenced through additional factor as chondrocalcinosis. Several conceptions on this symptom have been taken into consideration.

Chondrocalcinosis↗