Paper - Multiple malformations of the limbs (1928)

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de Lima JA. Multiple malformations of the limbs. (1928) J Anat. 62: 333-338. PMID 17104197

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This 1928 paper by deLima describes abnormal development of the limb.

Modern Notes: limb abnormalities | limb

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Multiple Malformations of the Limbs

By J. A. Pires De Lima, M.D.

Professor of Descriptive Anatomy, Faculty of Medicine, Porto (Portugal)


Dosrevm-CuamparveE() classifies variations of the fingers and toes into six groups, as follows:

I. Variations in the number of digital rays: increase—hyperdactylia; decrease—hypodactylia.

II. Variations in length of the digits, the number of the phalanges being © normal: increase—megalodactylia; decrease—brachydactylia.

III. Variations in volume of the digits: increase—macrodactylia; decrease —microdactylia.

IV. Variations in the direction of the axes of the digits (clinodactyly): antero-posterior deviations—camptodactyly ; lateral deviations—varus or valgus.

V. Variations of the phalanges: increase—hyperphalangism; decrease— hypophalangism.

VI. Variations affecting the independence of the individual digits: syndactylia.

’ In a book recently published(2) I showed that pure anomalies can be seldom classified by means of the foregoing scheme, as, in most cases, several variations are associated not only in the same individual but also in the same limb. In this book I have recorded 70 cases of congenital atrophies of the limbs occurring in Portuguese and have shown that these deformations are much more frequent in the male (67-1 per cent.) than in the female (31-4 per cent.). In other words, more than two-thirds of the persons affected by con- genital atrophy of the limbs were males. ©

I noted further that, as a rule, two, three or more anomalies were associated in the same individual and that these anomalies occurred most frequently at the distal extremities of the four limbs (22-8 per cent. of all cases).

Since my book was published I have had the opportunity of observing some further cases of limb anomalies and a description of the most remarkable of my hitherto unpublished cases, which came under my notice on the 6th May, 1927, may prove of interest.

Ernesto A. P. R. of Oporto, a male 7 years old, in addition to malforma- tions of the four extremities has very deformed ears which are cornet- shaped and inclined forward (fig. 1). One of his brothers was born nearly deaf and as a result his speaking is faulty.

The right hand of my case is greatly atrophied and reduced to a thumb, the skeleton of which is represented by a very small phalanx (figs. 2 and 8).

A radiograph of the hand shows no trace of carpus, of metacarpus, or of digits other than the thumb.

The left hand is affected by brachydactyly due to atrophy of the inter- mediate phalanges, as is clearly visible in the radiograph (fig. 8). In addition to the agenesis of the trapezoid or of the capitate bone the three ulnar digits of the left hand are camptodactylous and the third metacarpal bone ex- hibits a forward bend.

Fig. 1.

Both feet are affected by club-foot of the varus type (fig. 4). In the right foot (figs. 4 and 5) the calcaneus is well developed but has suffered a congenital luxation and a considerable displacement, being nearly vertically disposed with the posterior surface opposed to the distal extremity of the fibula.

Below the calcaneus and at right angles to it is a long bone which is apparently the fifth metatarsal; it supports a rudimentary toe (? fifth toe) exhibiting two phalanges and incapable of active movement. Multi ultjple Malformations of the Limbs 335

Fig. 2.

Fig. 3.

The distal part of the foot consists of a well-developed transversally dis- posed hallux, with the first metatarsal. Proximal to the first metatarsal are two nuclei which may represent the first and second cunciforms. Between the caleaneus and the epiphysis of the tibia are two little nodules which cannot be identified. It is to be noted that in this foot there is agenesis of the talus.

The left foot is also greatly deformed and transversally disposed with the free extremity of the hallux looking towards that of the right hallux (figs. 1 and 4). In this foot there is also agenesis of the talus; the calcaneus is vertically disposed and overlaps the lower end of the fibula. In addition to the calcaneus, which is small and not so well developed as the corresponding

Fig. 4.

bone of the right foot, the following osteological elements are present (fig. 6). A deformed first metatarsal, at the distal extremity of which are the elements of two toes, a fairly well-developed hallux and a minute nailless toe repre- sented by a phalanx only. This rudimentary toe is situated below and on the fibular side of the hallux. Between the proximal extremity of the first meta- tarsal and the inferior tibial epiphysis may be seen two little osseous nodules, which probably represent the first cuneiform and the navicular. In the neigh- bourhood of the distal end of the calcaneus is a small elongated nodule, which may represent the terminal phalanx of another toe (? fifth).

The bifid left hallux may be regarded as a compensation for the absence or extreme atrophy of the fifth toe, which is better developed in the right foot but reduced to a phalanx in the left.

As the talus is absent and is not interposed between the tibia and the calcaneus in both feet the latter bone has assumed a vertical position. At the same time, the reduced elements of the fore part of the foot, the meta- tarsus and the toes, have suffered an inward rotation of 90° and the outer sides of the two feet, which thus look forwards, function as the chief pedal supports.

In spite of the deformities of his feet the boy can walk quickly, with the knees far apart, the feet transversely disposed and the trunk oscillating from side to side.

(Radiographs by Dr Roberto de Carvalho.)


(1) DuBRevIL-CHAMBARDEL. Les variations du corps humain. Paris, 1925.

(2) J. A. Pires DE Lima. Anomalias dos membros nos Portugueses. Porto, 1927.

Cite this page: Hill, M.A. (2021, April 13) Embryology Paper - Multiple malformations of the limbs (1928). Retrieved from

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