Diseases of Childhood

Description 1

The pathological process begins in fetal life and consists in disturbance of the normal ossification of primary cartilage. It affects endochondral ossification only, never intramembranous ossification. The flat bones, therefore, escape entirely. The vertebrae are only slightly affected while the long bones of the extremities suffer most but not equally, though the disturbance is symmetrical. The humeri and femora are almost always the seat of the greatest interference with growth. One of the most striking changes in the skull is synostosis or early ossification of the tribasilar bone; this is formed of two parts of the sphenoid and the sphenoidal process of the occipital bone. […] This prevents normal expansion at the base of the skull, and the brain, as it grows, is thus crowded upward and forward, causing the great prominence of the forehead. There is frequently a moderate degree of hydrocephalus present. The upper jaw appears prominent on the account of the depression at the base of the nose. In the long bones there is marked interference with normal proliferation of cartilage cells. […] Those that survive are delicate during infancy, but afterward may become strong and healthy. The most striking thing about their appearance is the very short legs and arms as compared with the length of the body. At birth the arms in many cases do not reach to the waist line. The epiphyses appear somewhat enlarged, the abdomen is prominent, the skin of the extremities is in deep folds, the soft parts seeming to be much too abundant for the shortened bones. In infancy, these children are often quite fat. The facial expression is characteristic. There is usually a deep depression and flattening at the base of the nose, with a very marked prominence of the forehead. […] Marked relaxation of the ligaments and rather feeble muscular power often delay walking until the third or fourth year. […] The so-called “trident hand” is characteristic. The fingers are very short and of nearly equal length, and an angular separation is seen at the second joint. […] The prominent hips, with marked lordosis, shortened extremities, and late bowing of the legs, present a striking picture. The maximum height attained is often not more than three and a half feet.

Holt, L.E. & Howland, J. (1897/1922). The Diseases of Infancy and Childhood: for the Use of Students and Practitioners of Medicine (8th ed, pp. 868-870). New York: D. Appleton & Company.

Created by: Taha Jilani, 06/08/2021

Entered by: Rachel Johnson, 07/12/2021

 

Description 2

Achondroplastic dwarfs are easily recognized. They are well nourished and strong, and of average intelligence. Their height varies from 3 to 4 feet; the head and trunk are of about normal size, but the extremities are short, the fingers, when the arms are at the sides, reaching little below the crest of the ilium. The important point is that in the shortness of the limbs it is the proximal segments which are specially involved, the humerus and femur being even shorter than the ulna and tibia (rhizomelia). The limbs are considerably bent, but this is more an exaggeration of normal curves and abnormalities in the joints than pathological curves. The features of rickets are absent. The hand is short, and has a trident shape, since the fingers, which are of almost equal length, often diverge somewhat. The root of the nose is depressed, the back flat, and the lumbar lordosis abnormally deep, owing to a tilting forward of the sacrum. The scapulae are short, the fibulae longer than the tibiae, and the pelvis is contracted [...]. Heredity plays little part.

Osler, W. (1892). The Principles and Practice of Medicine (pp. 1137-1138). New York and London: D. Appleton and Company.

Entered by: Sonia Y. Khan, 06/24/2020

Edited by: Rachel Johnson, 07/13/2021

This remarkable impairment of nutrition follows absence or loss of function of the thyroid gland, either congenital or appearing at any time before puberty. There is remarkable retardation of development, retention of the infantile state, and an extraordinary disproportion between the different parts of the body. […] The condition is rarely recognized before the infant is sex or seven months old. Then it is noticed that the child does not grow so rapidly and is not bright mentally. The tongue looks large and hangs out of the mouth. The hair may be thin and the skin dry.

Usually by the end of the first year and during the second year the signs become very marked. The face is large, looks bloated, the eyelids are puffy and swollen; the alae nasi are thick, the nose looks depressed and flat. Dentition is delayed, and the teeth which appear decay early. The abdomen is swollen, the legs are thick and short, and the hands and feet are undeveloped and pudgy. The face is pale and sometimes has a waxy, sallow tint. The fontanelles remain open; there is much muscular weakness, and the child can not support itself. In the supraclavicular regions there are large pads of fat. The child does not develop mentally; there are various grades of idiocy and imbecility.

Osler, W. (1909). The Principles and Practice of Medicine (7th ed.). London: Appleton and Co. Pg. 768-769.

Entered by: Erin Choi, 7/17/2020

The face is flat and broad and destitute of prominence. […] eyes are obliquely placed and the internal canthi more than normally separated. […] the forehead is wrinkled transversely from the constant use of the occipitofrontalis muscle in opening the eyes. […] The tongue is long and thick and very rugous. The nose is small. The skin […] is deficient in elasticity […]

The children […] become extremely good mimics. […] No amount of coercion will induce them to do that which they have made up their minds not to do. […] Often they will talk to themselves, and they may be heard rehearsing disputes […] They are always amiable both to their companions and to animals. They are not passionate nor strongly affectionate. They are usually able to be taught to speak; the speech, however, is somewhat thick and indistinct, and destitute of musical cadence […], but may be greatly improved by training. […] not only are they prone to chilblains and frostbite, they are but little tolerant of excessive heat […]. Their early months of babyhood were perfectly uneventful […] when first dentition proceeding, […] it took less notice of those around it; many of its movements became rhythmical and automatic, […]. In others the crisis at first dentition is not so marked. […] they have […] not unfrequently loss of speech. […] It was not a case of aphonia; he appeared to have no power to convert ideas into words. […] Gradually after two years of absence, speech returned. […] However, he afterwards always spoke of himself in the third person. […] They are bright in their expression, often active in their movements, agile to a degree, mobile in their temperament, fearless as to danger, persevering in mischief […] The apathetic class he describes as awkward, clumsy, […] brooding and melancholy, or vacuous and indifferent. […]

Common sensation is generally much less acute […] Special sensation is also obtuse. Hearing is generally less acute, and this is often an important element in cases of delayed speech. […] Congenital cataract is very commonly associated […] Strabismus […] and nystagmus, though less common, is not infrequent. Myopia, but especially hypermetropia, is a frequent accompaniment […] sense of smell is ill-developed […] The muscular system is weak. […] walking delayed to the third or fourth year is a very common occurrence. […] The high, narrow-vaulted palate […] ill-development of the lower jaw, […] so that labials are expressed with difficulty. In addition to this the tongue is large, flabby, and defective in its muscular movements […].

Down, J.L.H. (1887). On Some of the Mental Affections of Childhood and Youth. J & A Churchill. Pg. 8-42.

Entered by: Ayushi Chintakayala, 7/10/2020

Infantilism with webbing of the skin of the neck and deformity of the elbow (cubitus valgus), occurring in the same individual is extremely rare […] This unusual phenomenon was observed exclusively in […] female patients, aged 15 to 23 years. Among the characteristic signs were retardation in growth and sexual underdevelopment. Webbing of the skin of the neck was slight to marked. Absence or fusion of the cervical vertebrae was not demonstrated, and the shortening of the neck was merely apparent, due to the webbing, and not real. The posterior hair margin extended well down on the neck. Deformity of the elbow, consisting of an increase in the carrying angle, or cubitus valgus, was constantly present. Movements of the head and arms were not hindered. Fascial asymmetry, dorsal scoliosis, and other deformities, mirror movement, difficulty in breathing and swallowing, shortness of breath, or mental retardation were not present in this group of patients.

Laboratory examinations of the blood and urine showed findings that were entirely within normal limits. Roentgenograms of the skull, cervical spine, elbow, wrist, and pel showed no abnormalities with the exception of demineralization and evidence of delayed union of the epiphyses […]There was definite genital development following administration of the anterior pituitary gonadotropic hormone in the two cases treated.

Turner, H. (1938). A Syndrome of Infantilism, Congenital Webbed Neck, and Cubitus Valgus. In Endocrinology, (Vol. 23, Iss. 5, pp. 566–574).

Created/Entered by Rachel Johnson, 08/01/2021