Analysis of External Phenotypic Signs of Undifferentiated Connective Tissue Dysplasia in Aspect of Pathogenesis and Age Dynamics of The Course of The Dysplastic Process

The article presents the current state and problems of clinical diagnostics of undifferentiated connective tissue dysplasia based on the determination of external phenotypic features, while postulating the primacy of clinical diagnostics of this condition. The terms applied to this problem are considered — phenotypic feature, stigma, minor developmental anomaly, congenital malformation. An original concept of the dysplastic process is introduced to describe the global in the population and private for a specific patient dynamic of the course of the state of altered metabolism of connective tissue, which is determined by the interaction of hereditary and behavioral factors, environmental conditions and the natural process of growth and aging of the organism. An original classification of external phenotypic features by categories of belonging to the organ system, determination method, influence on the clinical picture, potential dynamics of the feature, frequency of occurrence, relation to ontogenesis, dysplastic process and the affected element of connective tissue is given as the basis for pathogenetic analysis of their diagnostic significance. As an example of the application of this approach, minor developmental anomalies are analyzed, anamnestic (impaired hemostasis, traumatic episodes), subjective (variants of pain syndrome), bone (dolichostenomelia, osteochondral dysplasia, limitation of elbow joint extension) and skin external phenotypic signs, for each of which the methods of determination are specified and possible limitations in real clinical practice are indicated. For skin signs, a grouping is carried out in relation to the main properties of the skin determined by a specific structural element of connective tissue. For the sign of increased extensibility, an alternative method of determination by a stretching maneuver on a plane between two standard strokes is proposed.

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