Congenital Mesodermal Dysmorpho-Dystrophy

This is the authors' abstract. We don't add key points for this paper.

As formidable as the term dysmorpho-dystrophia mesodermalis congenita sounds, it is more inclusive and descriptive than the many other terms applied to the different manifestations of congenital mesodermal dystrophy (1, 8, 9). This statement is prompted by our evaluation of the applicability of the diagnosis of Marchesani's syndrome to two sisters with multiple striking findings. Marchesani's syndrome per se has not been reported in either the American or foreign roentgen literature. It has, however, appeared in foreign ophthalmologic journals (1, 5–8) and recently in American publications in other fields (3, 9). Specifically, the syndrome includes short stature, a brachycephalic skull, brachy-dactyly, well developed subcutaneous tissues, myopia, and glaucoma, with frequent association of spherical and∕or dislocated lenses. In addition, congenital heart defects have been reported (1, 2, 9). In spite of these specific features, not all cases recorded in the literature have had exactly the same findings. Thus, the comments and classifications of Marchesani, Weve, and Schmid (1, 8, 5) not only are convenient, but also represent a step in the right direction in eliminating the use of eponyms for each variation of the “broad spectrum” of the related but slightly different entities. Case Reports G. G., a 10-year-old girl admitted to the University of Minnesota Hospitals on June 11, 1958, was described by her mother as having been “different from birth.” Her eyes were depressed and “rolled,” and she was unable to open them fully. She ate poorly and was slow to develop. She had suffered repeated respiratory infections, otitis, poor vision associated with headaches, fatigability, and recurrent ulcerations of the feet, especially in winter. A heart murmur was discovered at six months of age. On admission, the patient was noted to have a low hair line with abundant hair extending down her forehead and neck. Her forehead was broad; her head was brachycephalic; her eyelids were narrow, and the lid fissures exhibited a reversed angulation of the lateral margins. The globes were small; the pupils reacted to light but accommodated poorly. Nystagmus was noted on right lateral gaze. Upward gaze was limited. Vision was 20∕400 bilaterally. Funduscopic examination showed flat, poorly defined disk margins. The media were clear. The ears were small and the preauricular folds were prominent. There was an anterior perforation of the left drum and an anterocentral perforation of the right drum. The maxilla was hypoplastic, presenting a “collapsed” appearance. Associated with this was a high arched palate with maldeveloped, deformed, and misdirected teeth. As a result, the mandible appeared to be prognathic. The neck was broad. In addition, the patient had a suprasternal thrill without a precordial thrill.