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Micromelia

fetal, extremities, normal, trunk, considerable, rachitis and described

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MICROMELIA The clinical tertn of micromelia comprises in its etiology totally different clinical conditions, which have in common abnormal shortness of the extremities as compared to the trunk. The external similarity at birth, often considerable obesity, the saddle nose, the relatively thick skull, an idiotic facial expression, the protruding tongue and the ridge like segments of the extremities, have caused the affection to be mistaken for athyreosis, and for this reason it is here described, although, like mongoloid idiocy, it has nothing whatever to do with the function of the thyroid. Cases of micromelia have often been described as "fetal myxce dema," "fetal cretinism," or even "fetal rachitis," owing to the peculiar affections of the bones.

All the descriptions contained in the literature under the names of fetal chondrodystrophy (Kaufmann), aehondroplasia (Parrot), fetal rachitis (Eberth) or congenital osteosclerosis (Kundrat) are referable to micromelia. Similarly, the terms of osteogenesis imperfecta (Vrolik), osteoporosis eongenita (Kundrat), micromelia chondromalacica (March and) arc equivalent and, like osteopsathyrosis and mieromelia annularis, designate the pathological process which may lead to micromelia without fetal affections of the cartilage if the defective function of the emlosteum and periosteurn causes a secondary impairment of the epiphyseal cartilage.

In both cases the arrested growth of the extremities is clue to fetal inhibition of the growth of the bones, while in athyreosis the arrest of development will commence after birth.

The clinical picture of micro rnelia from whatever causes is dominated by t he dis proportion between the ex ceedingly short extremities and the trunk, which is about of normal size.

The head, which is usually large and thick, is well set off against the body by a normal neck. Considerable obesity imparts to the child a bloated appearance retnincling one of myxcedema, especially in the nursing period. In addition to this, there are the broad saddle nose, the clumsy facial contour and the cretinoid ex pression (mused by the pro truding tongue, although the latter may not be very promi nent in some eases and absent in others:.

The trunk is normal, aside front considerable lordosis, which will make its appearance with the onset of static func tions. In spite of eonsiderable adiposity, the narrow pelvis and the short extremities will give the trunk an abnormally elongated appearance.

The typical point in micromelia is the shortness of the extremities. In very serious deformities the upper arms and thighs arc reduced to half their norinal size, with considerable adiposity, as. in chondrodys trophy, but not always in osteogenesis imperfecta, which ordinarily does not lead to micromelia. The. lower arms and legs are also found to be shortened when exact measurements are taken, but they are always relatively much longer than the upper arms and thighs.

If the shortening of the extremities is very pronounced, there will be a remarkable formation of fokls on the soft parts, the extensor sur faces of the lower and the flexor surfaces of the upper extremities being particularly affected.

The illustrations (Figs. 139 to 1-12) speak for themselves and need not be specially described.

The organs of the special senses are not disturbed. A per fectly normal intellect and normal physical and psychic development indicate the absence of disturbed t hyroid function.

The disproportion between trunk and limbs remains per manently unchanged. Life is often in danger through the fetal defor mity. St ill birt hs, death at delivery or in the first week thereafter, are of frequent occurrence. On the other hand, micromelia patients may reach an old age with physical and mental competency.

The diagnosis can be easily made from the above descrip tion.

There is no justification for the designations of fetal cretinism, fetal rachitis, fetal myxcedema.

Anatomically, two totally different processes are to be considered as causes of micromelia: 1. Fetal Chondrodystrophy (Kaufmann).—This affection was first described in 1S7S by Parrot and separated from rachitis as a primary cartilaginous affection, or achondroplasia hatale, but did not arouse interest until Kaufmann took the subject up in his well-known works on the subject.

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