| Ehlers-Danlos s. |
1. a group of inherited disorders of the connective tissue, occurring in at least ten types, I to X, based on clinical, genetic, and biochemical evidence, varying in severity from mild to lethal, and transmitted genetically as autosomal recessive, autosomal dominant, or X-linked recessive traits. The major manifestations include hyperextensible skin and joints, easy bruisability, friability of tissues with bleeding and poor wound healing, calcified subcutaneous spheroids, and pseudotumors; variably present in some types are cardiovascular, gastrointestinal, orthopedic, and ocular defects. The biochemical defects are known for several types. Type IV, with prominent vascular manifestations, is caused by defects in the structure, synthesis, or secretion of one type of procollagen; type VI, with prominent ocular manifestations, is caused by a deficiency of lysyl hydroxylase; type VII, with multiple joint dislocations, is called also arthrochalasis multiplex congenita and is caused by mutations involving the normal cleavage sites of some procollagen chains; type IX is X-linked cutis laxa; and type X is due to a defect in fibronectin that interferes with normal platelet aggregation. See accompanying illustration. 2. cutaneous asthenia (def. 1).
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| Ehrenritter's g. |
g. superius nervi glossopharyngei.
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| Ehrenritter's ganglion |
ganglion superius nervi glossopharyngei.
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| Ehrlich's acid hematoxylin s. |
a preparation of hematoxylin, used as a nuclear stain.
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| Ehrlich's aldehyde r. |
urobilinogen reacts with p-dimethylaminobenzene to form a red-colored substance; used for semiquantitative determination of urobilinogen in urine and feces.
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