The Treatment And Management Of Bilateral Phocomelic Ectromelia Of The Lower Limbs

Dietrich Ch. Petersen, M.D.


The following article is reprinted with permission from Zeitschrift für Orthopädie und ihre Grenzgebiete, Vol. 100, No. 3, 1965. Dr. Petersen is affiliated with the Orthopedic Medical Institute Annastift, Hannover-Kleefeld, Germany, which is under the medical direction of Prof. Dr. med. G. Hauberg. The article was translated for the ICIB by Maurice Schweizer, Ph.D., New York University.

In accordance with the classification terminology of Lindemann and Marquardt, we denote as phocomelic ectromelia those severe retrograde malformations (Werthemann) which are accompanied by an extensive hypoplasia or aplasia of the long bones, so that the terminal limb (hand or foot) is very close to the shoulder or pelvic girdle. This condition is also referred to as "intercalary hemimelia" in the American literature, and as the "axis type" of ectromelia by Blauth and Willert.

In the course of the dysmelia upsurge in the years 1959-1962, described by numerous authors, quite a large number of children were born with severe bilateral malformations of the legs which would be categorized as phocomelic ectromelia (Fig. 1 ). In these cases the feet were generally well-developed but were in highly abnormal positions. Frequently the plantar surface was in a position of dorsiflexion, so that the entire foot was externally rotated.

Part of the fibula had a bony connection; cases of associated hypoplasia of the pelvis were described*.

*The meaning of this sentence did not translate clearly. -Ed.

Since little or no reference material existed on the treatment and management of these severe malformations, new methods had to be explored.

From the beginning it has seemed important to us, as far as the children in the first year of life were concerned, to try to bring the feet out of their abnormal position. The purpose of this procedure is to straighten the long axis of the leg and to effect a functional increase in leg length, which will be valuable for the later prosthetic application. To correct and possibly to extend the legs at the same time, a plaster cast is applied in two stages. First the feet are corrected as much as possible, and in this position are put in a plaster cast. Subsequently a pelvic girdle is made, the limbs are placed under slight traction, and the pelvic and foot plaster casts are connected with each other, a procedure also applied by Blauth. As demonstrated in Fig. 2 , this conservative method can result in quite satisfactory corrections if started early and a progressive sequence followed. If treatment is started at a later age, the procedure described frequently does not lead to the desired success. In such cases, surgery is required to achieve a correction, possibly by placing the talus underneath the fibula or, according to existing conditions, merely through surgery of the soft tissues.

As soon as the child clearly reveals a readiness to stand upright, we supply it with a standing board, in order to bring it into a vertical position. The child is seated on a narrow, displaceable saddle, which can be individually adjusted. The trunk is fastened to the board with a wide belt of rubber ticking. The feet are kept in molded leather boots which are made over plaster casts for optimal fit in order to facilitate the provision of a slight elastic traction (Fig. 3 ). With this standing board the child can be brought to a play table, and at the same time the upper limbs, frequently malformed also, can be trained through occupational therapy.

The standing board is constructed in such a way that it can be removed from the frame with the foot attachment and can be put into the bed, thus making available a traction board for extension of the lower limbs.

In addition to these measures, intensive physical therapy must be applied from the beginning, especially for strengthening the trunk and gluteal musculature. No matter how short the legs may be, their functional development should also be vigorously promoted through physical and occupational therapy. The better the preliminary work in this respect, the less difficult the later management will be.

For the next step in the child's prosthetic management, we use "stubbies," which were constructed in cooperation with our research laboratory staff under the direction of Helmut John, chief prosthetist. The stubbies consist of a split pelvic belt made of ortholen, which is laced in front and elastically connected in back. Thus movement can be achieved when the child pushes forward with one side of his pelvis; a rigid pelvic basket would make this virtually impossible.* The necessary ischial tuberosity support is incorporated in the split pelvic belt (Fig. 4 ).

Editor's Note: See also the reports of ambulatory devices developed by R.E. Spielrein (ICIB, June 1964, pp 9-12) and C.A. McLaurin (ICIB, Oct. 1966, pp 19-26).

The feet are again held in molded leather boots so that traction may also be applied with this device.

At first, the bottoms of the stubbies are of considerable length and shaped to lie flat on the floor in order to provide the child with sufficient stability for standing. The height of the stubbies corresponds with the normal length of the legs. We consider this arrangement more favorable for locomotion than low stubbies, since the shorter the leg bars, the smaller the stride length. As soon as the child is able to stand without support, we shorten the bottoms of the stubbies and round them off at the lower end (Fig. 5 ). Although this change diminishes stability, the possibility of locomotion is increased remarkably. It is always gratifying to observe how eagerly the children take advantage of this possibility.

Only after these preliminary preparations do we provide the children with more conventional ambulating equipment. The technical structure of this equipment is similar to that of the stubbies. Again a split pelvic belt of ortholen is elastically connected at the back. The hip joints of the apparatus are freely movable, but, at least initially, the generally insufficient gluteal musculature has to be supported by gluteal straps. The supports for the ischial tuberosities are not at the pelvis basket, as in the stubbies, but are attached to the uprights of the apparatus. The feet are held in molded leather boots. It is important that these boots fit tightly, to prevent them from slipping when traction is applied. The apparatus ends in Bock-SACH feet, over which regular shoes are worn (Fig. 6 ). In order that the desired traction may be achieved as easily as possible, the molded leather boots are suspended from lateral slots provided in the uprights of the apparatus. These slots are located in an anterior-downward position, to prevent the boots from sliding out (Fig. 7 ).

The slots are located at varying heights, so that traction can be adjusted during the child's growth. Before the child goes to school, knee joints must be built into the device to make sitting easier.

With these devices, the children can move around on level ground. However, they cannot climb sills or staircase steps unless their hands and arms are so well developed that they can learn to push and propel themselves with canes. Where severe malformations of the arms exist, we believe that this walking device approaches the outer limits of prosthetic assistance. Where such quadruple malformations exist, it may be better to provide the child with a special wheelchair.

Dietrich Ch. Petersen, M.D.

References:

Blauth, W.: Arch, orthop. Unfall-Chir. 1963, Bd. 55, S. 345.
Blauth, W., und Uhlig, R.: Gliedmassenfehlbildungen der unteren Extremität. Veröffentlicht von der Bundesfachschule für Orthopädietechnik, Frankfurt a. Main 1963.
Blauth, W., und Willert, H.G.: Arch, orthop. Unfall-Chir. 1963, Bd. 55, S. 521.
Hepp, O.: Jb. d. Fürs. Körperbeh. 1962, S. 59.
Köchling, J., und Nedelmann, H.: Beschäftigungstherapie 1963, H. 3, S. 1.
Mau, H.: Dtsch. med. Wschr. 1963, Bd. 88, S. 1064.
Rettig, H.: Dtsch. med. Wschr. 1963, Bd. 88, S. 1731.
RÜtt, A.: Arch, orthop. Unfall-Chir. 1963, Bd. 55, S. 329.
Ders.: Der kongenitale Femurdefekt, in: Handbuch der Orthopädie Band IV/I. G. Thieme, Stuttgart 1961.