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5. Paltauf's dwarfism.

6. Genuine dwarfism, and

7. Mongolism.

This classification is sufficiently comprehensive to include all of the known varieties of stunted development, with the possible exception of some of the cases of infantilism, of which there are several types.

Chondrodystrophy, or as it is commonly but erroneously termed, achondroplasia, is essentially a disease of the long bones or those of endochondral formation, arising during intra-uterine life from some cause as yet unknown. Its pathology was first worked out by Kaufmann, who distinguished the three varieties, chondromalacia foetalis, chondrodystrophia hypoplastica, and chondrodystrophia hyperplastica. All of these forms are congenital, although the lesions may not be apparent until some time after birth. These lesions consist essentially in a disease of the cartilage, with a resulting impairment of bony formation. Bones that develop in membrane are not affected. There may be an arrested development of the cartilage cells occurring during intra-uterine life, with the result that ossification does not occur in the long bones. In this type, which is characterized as chondromalacia foetalis, the foetus is almost always born dead, with soft pliable limbs. This is the class of cases that has hitherto been termed "foetal rickets," but which bears absolutely no relation to rickets. This class represents, likewise, the majority of the cases, for practically very few of the cases of chondrodystrophy survive birth. In the hypoplastic variety, the chief characteristic is the arrested growth of the diaphysis, which is likewise variously deformed; there is an absence of normal compact bone, whose place is taken by a spongy bone with irregular Haversian systems and with varying thickness throughout the shaft. The marrow cavity is eccentric and the ends of the diaphyses show a peculiar cupping instead of the even line of union with the diaphysis (Bullard and George).5 The epiphyses are irregular in their shape and in the period of their ossification. In the hyperplastic variety there is an enormous overgrowth of the epiphyses. The joints are variously distorted. In some of the

cases of chondrodystrophy there is practically no distortion of the skeleton, whose principal lesion is the arrested development of the long bones; in other cases there are pronounced deformities, consisting of bow-legs, coxa-vara, scoliosis, kyphosis, lordosis, etc. During the past few years, many cases of chondrodystrophy have been reported in the literature, but these have been mostly of youths and adults. Only in extremely rare instances has the case come to the observation of the physician during the period of infancy. Jacobi and Parrot have reported cases showing the infantile stage of the disease. I have been fortunate enough to observe one of this early type of the disease, which it is now my privilege to present before the Society. This case, apart from its extreme rarity, is particularly interesting, inasmuch as it shows also the lesions of inherited syphilis, and possibly indicates some causal relationship between the two conditions. The history of this case follows:

J. A., female, was born Oct. 31, 1908. The mother is 29 years old, American, of Irish extraction. The father is 33 years. old, an American Hebrew of English parentage. The maternal grandparents are living and in good health. The paternal grandmother died at the age of 75 from senility; the paternal grandfather died at the age of 65 from chronic nephritis; he had long suffered from bronchial asthma. The parents are not related, have been married 9 years, and have two other children, a girl 8 years, and a boy 5 years of age. The girl is tall and thin and has enlarged tonsils. The boy is healthy and stout. The mother has had one miscarriage 41⁄2 years ago. There is a rheumatic history in both parents and in their antecedents. There is no obtainable history of syphilis in either parent or in their immediate forebears, or of gonorrhea, tuberculosis, insanity, nervous disease or consanguinity. During the last gestation the mother was well except for occasional pains in the abdomen. During the fifth month of pregnancy, she was frightened by a photographer's flashlight. Since giving birth to the child, she has lost considerably in weight. The infant was born at term after a small pigmented nevus on the occiput, and a faint desquamating had ruptured four days before. Primary respirations were

slightly delayed. Weight was estimated at 71⁄2 pounds. The only thing unusual noticed at birth was the presence of snuffles, a small pigmented nevus on the occiput, and a faint desquamating eruption about the anus. This eruption persisted until the infant was four months old. The cord fell off at the tenth day, at which time there appeared an icterus that lasted three days. At this time it was noticed that the right arm was slightly limp and partly rotated inward. This was attributed by the physician

[graphic]

FIG. 1. J. A. Case of achondroplasia with congenital lues. This picture shows the dwarfed extremities, the prominent forehead, the broad root and depressed bridge of the nose, and the protuberant abdomen. The facial expression is bright as distinguished from that of a case of sporadic cretinism.

in attendance to a birth palsy. The arm remained in this condition for one month, at the end of which time the infant began gradually to use it. At the age of 9 months the right arm was still weaker than the left and was rotated inwards.

There was nothing abnormal noticed about the head at birth, but at the second month it was observed that this was getting ap

Until it was 3 During this time.

parently larger and the forehead was bulging. months old the infant was fed at the breast. it was quite restless, and would pull its head away frequently from the breast, apparently on account of interference with sucking. It slept but little at night and cried a good deal. It was then weaned, because the mother thought that her milk did not agree. It was at first fed fed on diluted condensed milk, and then on modified cow's milk, so that when 5 months old it was getting

[graphic]

Fig. 2. J. A. Same case as in Fig 1. Note the lordosis and the slight scoliosis in the lower thoracic region and the kyphosis in the lumbar region.

4 ounces of milk and 3 ounces of barley water every three hours. Orange juice was added to the dietary at the 8th month. The lower central incisors erupted at the 8th month and the upper ones one month later. The infant was moderately constipated. When 7 months old she contracted pertussis which lasted for 7 weeks and was complicated with a slight attack of broncho-pneumonia lasting for one week, when the infant was

8 months old. Until the present time her head has apparently been getting larger, particularly in the region of the forehead, and the temples have become less hollow. The veins of the head have always been prominent. The child has apparently grown in length very slightly, if at all, since birth, but has gotten stouter. Her limbs particularly have appeared stunted. Since the fourth month the child has slept well, has noticed her surroundings, has had no apparent defect in sight or in hearing, but has not been able to sit up or to hold up its head. The mother had noticed that the abdomen was protuberant and that the back was deformed. At the age of 5 months the glands in the groin were perceptibly enlarged.

The infant was first seen by me when 9 months old. (Figs. I and 2.) It was unable to sit up or to hold up its head, which was apparently large, with a high bulging forehead, a large anterior fontanelle, no craniotabes, and with markedly prominent cephalic veins. The skin of the face as well as of the rest of the body was of the characteristic café au lait pallor, but the facial expression was as bright as that of a normal infant of the same age. The eyes were wide apart and the root of the nose was broad and the bridge depressed. Snuffles were present. There was a faint branny desquamation of the skin above the left eyebrow. The upper and lower central incisors were present. The head measurements were as follows: circumference 451⁄2 cm., diameters-interparietal, 121⁄2 cm., intertemporal, 12 cm., frontooccipital, 141⁄2 cm., and sub-occipito bregmatic, 14 cm. The body length was 581⁄2 cm., and the weight was 4.94 kilograms (10 pounds, 14 ounces). The spinal column was markedly deformed, (see Fig. 2.) There was a moderately rounded kyphosis of the entire lumbar region and a slight lordosis and scoliosis in the thoracic region. There were no rachitic manifestations in the conformation of the ribs and chest, but the latter was appreciably flattened and its circumference was 33 cm. The abdomen was large and bulging and its circumference 364 cm. The lungs were normal, the heart rate was 120, of normal force and rhythm. Thyroid gland could not be palpated, nor could any enlargement of the thymus be detected by percussion. The lower border of

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