Communications and Archives of the Medical Society of Paris Hospitals.
A Congenital and Symetrical Syndrome in Osseous Developement: Dyschondrosteosa { Dyschondrosteosis } By Leri, A and Weill,J
Vol 35, 20 DEC 1929, pp 1491 to 1494
{ Comments/ Clarifications/ Uncertainties in curly brackets }
MEETING of DECEMBER 20, 1929 p1491
A Congenital and Symetrical Syndrome in Osseous Developement: Dyschondrosteosa
by Messeurs Andre Leri and Jean Weill.
The patient that we present is dwarfed, since her height is only 1m36. On first seeing she gives the appearance of achondraplasty or, more exactly, of one of the varieties of attenuated achondraplasty / "hypochondroplasty", which is very common. She does not have complete achondroplasty or indeed macrocephelia, or fork-hands { gabelhand, bayonet-wrist ? }; but like achandroplastic cases, she has a torso of normal developement but limbs exageratedly short, and it is this micromelia which is the defining element of the clinical appearance. However, when one examines, clinically and radiographically, her shortened limbs, it is noticeable that the micromelia is of a distinct type and that its origin is very different.
Observations - Miss G..., ,twenty-five years, came for consultation for rather vague back pains, suffered for many years. Her height is 1m36. Her head is normal. The cranium, a little short, has a anterior-posterior diameter of 17 centimetres and a transverse
diameter of 14 centimetres. It is regular, and presents radiographically, no anomaly of the calvarium or the skull-base. Her face is normal. She has neither dental nor palate anomalies.
Her trunk appears, also normal, without exagerated curvature, but with a certain degree of higher dorsal scoliosis. She is rather thin, since her chest circumference is only 73 centimeres and is exceeded by the pubis-vertex measurement of 77 centimetres. Neither this chest circumference nor this pubis-vertex measurement are proportionate to her height., which would normally be double of these two dimensions, that is to say 1m46 (73 X 2) or 1m54 (77 X 2). It is the micromelic lower limbs which is the reason: the measurement from pubis to ground is only 59 centimetres, instead of an expected vaslue of 77. In other words, compared to the trunk the lower limbs are shortened by almost 20
centimetres.
The micromelia also relates to the upper limbs, because, with arms dangling, fingertips reach only the upper third of the thigh, as in achondroplastic cases.
Her arm-span is 1m31, which is proportional to her height (1m36) and are normally
equal, but by no means equal to the chest circumference (0m73) and should be
double (1m46). This upper and lower micromelia is thus the dominant symptom.
She is not, as in achondroplasty, predominantley rhizomelic: the upper and middle segments are both shortened, but their normal proportions are preserved (or if anything it is the middle
segment which is, relatively, more affected ).
Upper limbs. Upper arm 22 centimetres length, forearm 18, whereas a woman having the same length of torso the two segments
would measure respectively 29 to 30 and 27 to 28 centimetres. On the Xray, the humeri share the same length reduction, and show nothing abnormal: neither the enlarged apophysic projections, nor curvatures, nor the thickening of achondroplasty.
In contrast, the bones of the forearm are very distorted. The lower end of the ulna, projects from the back of the wrist, is completely subluxed rearward on the left side, partially on the right, and interferes with motion of the wrist. This luxation is reducible by applying force between the hand and ulna-head. But this manouevre is painful and luxation returns at once. The upper ulna is thickened, dumpy, dense. The radial-head; on the contrary; lacking cup-shape , is flattened on the right and buffer-shaped,almost non-existent on the left where the bone stays separated by several
centimetres at the elbow-joint. The lower end of the radius is broad and spread. The bulk of the bone is strongly curved, exagerating the distance which separates it from the ulna. This interval is partly packed by a broad plate in the shape of a fin
which prolongs the radial interosseous crest. These deformations give the forearms a totaly
distinctive radiographic aspect.
Bones of the carpus, metacarpals and phalanges, which are normal, appear, by comparison, relatively lengthened.
Lower limbs the thigh and the leg have dimensions about in
proportion: the first two segments are too short, the middle a little more affected than the upper.
The femur is 36 centimetres long, whereas a woman having the same length of trunk would measure 42.
The fibula is 28 centimetres and the tibia 25 centimetres, which represents a shortening of 8 to 10 centimetres. All these bones have, moreover, a normal appearance if it is only on the level of the tibia diaphysis sections, at the upper-interior ends of these bones, jutting to each side is an osseous ridge, conjectured to be osteogenic exostoses.
The head of the fibula is not "over-enlarged" as one often observes in achondroplasy. It is articulated with the tibia at a broad facet. The feet are completely normal.
In addition, to be noted, the viscera are nomal.
All things considered, in summary, this patient shows accentuated micromelia, involving the rhizo and mesomelic segments, and especially this last. The forearm presents, in particular, large symetric osseous deformities, visible on the X-ray which we publish { X-ray and picture of patient are not clear enough to scan in and place here }.
The resemblance to achondroplasty is superficial. The congenital and symetric osseous deformities do not point to rickets. The patient, breast-fed, had moreover, cut her teeth at the usual age. Her disease history is diphtheric angina at three or four
years-old, jaundice at twenty years old. Menstruation, since age fifteen, very regular.
It is possible that syphilitic heredity is a factor in these
osseous developmental deformities: her mother, paralysed for several years, is considered to be syphilitic by the doctors who look after her; her brother, with childhood paralysis, has a club-foot and a lame leg (infantile spinal or cerebral paralysis ? ).
In all events, the etiology, the disordered development, congenital and symmetric, that this syndrome presents, truely constitutes a morbid entity and we do not know of other examples.
Achondroplasty, which begins due to inter-uterine stress, while in the cartiliginous state, the
bones form mis-shapen. We believe that we can propose the name of dyschondrosteose { dyschondrosteosis } for the affliction that is present in our patient and which we have lately published, since many of her bones have a normal morphology but with a reduced size and some
a completely abnormal morphology.
