A CHIRO-CHEILO-PODALIC SYNDROME. By Ivo PITANGUY

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1 A CHIRO-CHEILO-PODALIC SYNDROME By Ivo PITANGUY Professor of Plastic Surgery, Catholic University of Rio de ffaneiro. Head of the 8th Infirmary of the Santa Casa de Miseric6rdia do Rio de ffaneiro, and SERGIO BISAGGIO Assistant-Surgeon, 8th Infirmary of the Santa Casa de Misericdrdia do Rio de Janeiro THE first person to study cases similar to those to be presented was Burian (1963) who described four patients with cranial, facial and limb deformities and general muscular hypoplasia, and suggested that this complex of congenital deformities might constitute a new syndrome owing to the constant nature of the symptoms. He called attention to the faces of these patients whose expressions were reminiscent of a person whistling I[ FIG. I A chart depicting four generations of the family studied in which the last three generations have been affected by the complex of symptoms described. The black circles indicate the members affected, the white circles those unaffected and the white circles cut transversally, those which were not studied by us. (" whistling face ") and whose deformities were particularly characterised by labial protrusion and microstoma (25 ram. in length in a 7-year-old patient). Besides these, other deformities existed such as blepharophimosis with false epicanthus, lagophthalmos, blepharoptosis, false coloboma of the nostril, craniofacial narrowing and facial paralysis (" mask expression "). The trunk and limb lesions were arthrogryphosis of the hands, club or varus foot, dorsolumbar scoliosis and generalised muscular hypoplasia (three also had hernias). Burian only suggested treatment for some of the facial deformities, possibly because 79

2 80 BRITISH JOURNAL OF PLASTIC SURGERY he ascribed more importance to these than to the deformities elsewhere. He concluded his article by inviting communications of similar cases since he was unaware of any previous presentations. Unfortunately the death of this great Czechoslovakian surgeon prevented our doing so. Clinical Picture.--In this paper six cases are presented. Four of these were studied in detail and registered at the 8th Infirmary of the Santa Casa de Miseric6rdia General Hospital. Of the six cases, five are members of the same family and of three consecutive generations. The first member affected is the father of seven children, three of whom (two boys and one girl) have the same deformity. Of the two sons, one is married, and among his three children one is identically affected (Fig. I). Our patients, however, do not have lesions identical to those described by Burian. In our family we were able to establish the facial, hand and foot deformities and in one member, moderate muscular hypoplasia. We did not find the cranial deformities described by Burian, and the abnormalities we did encounter were moderate. The facial deformity, though less severe, was present. The lips were characteristic of the " whistling face" although there was no microstoma (Fig. 2). The rest of the face was normal. One of the patients had some muscular hypoplasia, especially of the arms, but he had long-standing asthenia and the limited use of his hands may have exaggerated a certain congenital hypoplasia. Nevertheless, we found the most characteristic lesions to be those of the hand which were bilateral in all the cases (Figs. 3, 4, 6 and 7). All the patients had hands contracted in a characteristic position (arthrogryphosis), clinodactyly and a certain degree of proximal syndactyly between the first phalanges. The palmar skin was deficient and internally we were able to verify a certain shortening of the tendons, vessels and nerves,, as well as generalised fibrosis of the surrounding tissue. All patients presented deformities of the feet. Three (all of the same family) were only slightly deformed with a mild degree of clinodactyly and arthrogryphosis of the first and second toes (Fig. 5). The fourth patient presented a gross club foot deformity (Fig. 6, B). ~Etiology.--The human limbs originate from small buds which appear during the third week of embryonal life. The superior ones are situated on each side of the body at the level of the cardiac eminence, and the inferior ones, which appear later, are located at the level of the implantation of the future umbilical cord. Development from these buds occurs gradually and by the eighth week the limb elements are fully formed (Fig. 8) ; facial growth also evolves between the third and eighth weeks of embryonal life and for this reason any factor which affects the embryo during this period might impede or hamper its development or interfere with the sequential morphogenesis of the evolving embryo. The factors involved might be genetic or of an environmental nature such as vitamin deficiencies, virus infections and drugs. Whether the ~etiology of the congenital deformities described is hereditary or not is debatable. This doubt arises in large part from the fact that only with painstaking effort were we able to extract any concrete data concerning gestation or the hereditary and pathological antecedents of the parents. This task is made more difficult by the guilt complex of parents of deformed children and their attempts to conceal similar cases in the family. In five of our patients who were of the same family, we managed to detail some of the hereditary data. An irregular dominant character was established which was perpetuated through three consecutive generations and was seemingly independent of sex (Fig. I).

3 A CHIRO-CHEILO-PODALIC SYNDROME 8I FIG. 2 The distinctive labial formation of the patients studied (Case A). A FIG. 3 A, B, C, The hand deformities characteristic of the series. The right hand is seriously affected, whereas the left is nearly normal. The alterations of the palmar lines are typical (Case B). IF C

82 BRITISH JOURNAL OF PLASTIC SURGERY We believe that the cases studied by Burian could be inserted in the

) or in the Bonnevie-Ulrich syndrome as suggested by the author himself. The cases A FIG.

presented here, however, lack certain characteristics necessary to include them in either syndrome.

4 82 BRITISH JOURNAL OF PLASTIC SURGERY We believe that the cases studied by Burian could be inserted in the M6bius syndrome (facial paralysis with associated involvement of the extremities, mask face, etc.) or in the Bonnevie-Ulrich syndrome as suggested by the author himself. The cases A FIG. 4 B A, B, The hand lesions in an infant (Case C). FIG. 5 The appearance of the mild foot deformities (Case A). presented here, however, lack certain characteristics necessary to include them in either syndrome. In accordance with the more accepted theories, the M6bius syndrome could be a consequence of a muscular and nervous deficiency of the sixth and seventh pairs

5 severely deformed feet presented by this patient. The abdominal pedicle was used to reduce palmar skin deficiency (Case D). A A B C FIG. 7 D A, B, ~, D, The hands of a patient before (A, B) and after (C, D) surgery. Skin was free grafted to the left hand and a Z-plasty done on the right (Case A).

6 8 4 BRITISH JOURNAL OF PLASTIC SURGERY (Heubner, I9OO ; Lennon, 191o ; Richards, 1953). The appearance oloursyndrome could be conditioned by a familial gene of dominant and irregular character which might act upon the growth centres of the face and limbs provoking the mesodermic disorganisation described. Treatment.raThe hand deformities appeared to be the most significant from both the functional and a:sthetic points of view, and their treatment warranted particular attention. The lips and the feet of three of the patients bore a minimum of deformity which did not trouble the patients and did not require surgical treatment. The patient 4 semanas (weeks) 1 7 semanas FIG. 8 Schematic representation of the embryological development of the limbs. Embryos of four and seven weeks and cross sections of the bone development of the superior limbs are depicted (Lewis, I9OI-O2). whose feet were greatly deflected internally (Fig. 6) was referred for orthopmdic treatment. The treatment of the hands consisted of: (I) the joint deformities were corrected by osteotomy followed by osteosynthesis in an adequate position ; (2) the deficiency of the skin was reduced by a tubular flap ; (3) the presence of fibrosis with multiple adhesions which impede the natural gliding range of the tendons and which were found at operation, required opening of the carpal tunnel and tenolysis of all the flexor tendons ; (4) the syndactyly was corrected when present ; (5) the flexor tendons were lengthened when necessary. Physiotherapy and elastic traction were found to be very useful complementary forms of treatment although the final results were never as good as desired. CONCLUSIONS Of the 115 cases of congenital hand deformities registered in our service, four cases (3"48 per cent.) presented the characteristics described in this paper. All four patients

7 A CHIRO-CHEILO-PODALIC SYNDROME 8 5 were Negro. Four of the six cases studies were men. A hereditary factor was identifiable in three of the four registered ; they belong to a family in which three generations are involved. The absence of earlier reference to this subject, as well as the nature of the grouped symptoms, leads us to believe in the possibility of a previously undetermined syndrome, chiro-cheilo-podalic in nature, the definite classification and denomination of which is difficult. Of the assemblage of symptoms presented, those deformities most suitably repaired by plastic surgery were the hand deformities, the treatment of which was not particularly rewarding, but the encounter with which we found very interesting. We would value any further pertinent communications and suggestions. SUMMARY Six patients with characteristic facial and associated hand and foot lesions are presented. These cases are compared with four described by Burian (1963). The constancy and familial character of the symptoms suggest the possibility of a previously undescribed syndrome. The possible mtiology of the complex of malformations and the treatment of some of the hand deformities is discussed. REFERENCES BURIAN, F. (1963). Br. 07. plast. Surg. I6, 14o. HEUBNER, O. (1900). Gharit#Annln, 25, 211. LENNON, M. B. (191o). Calif. St07. 2lied. 8, 115. LEwis, W. H. (19Ol-O2). Am. 07. Anat. I, 145. RIcI-Im~S, R. B. (1953). 07. Bone 07t Surg. 35A, 437-

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