- Email: [email protected]
Pectus excavatum and polydactyly; An innocent syndrome
Pectus Excavatum and Polydactyly; An Innocent Syndrome J. H. Kennedy PECTUS E X C A V A T U M A N D POLYDACTYLY; A N I N N O C E N T S Y N D R O M E
J. H. KENNEDY, L o n d o n SUMMARY
A number o f potentially serious congenital cardiac defects are associated with polydactyly. O f these, the best-known is that o f Holt-Oram (Sanz 1973; Poznanski et al 1971, 1973) because o f its surgical implications, described by Rainer (1972). Familial association has been reported by Yujnovsky (1974) with Polydactyly in three generations. It is the purpose o f this report to record a case o f accessory thumb and pectus excavatum in an otherwise healthy young woman o f normal karyotype who asked that the extra thumb be removed f o r Cosmetic reasons. CASE REPORT
A nineteen year old Indian woman from Kenya was referred with an accessory right thumb. She knew of no other blood relations with congenital defects, and so far as she had been told, there were no unusual aspects to her mother's pregnancy. Apart from the accessory right thumb, which she had learned to conceal in longsleeved garments, she was considered a normal child, and had a normal development. She was trained as a computer operator in London, and it was only when she contemplated marriage that she sought removal of the extra thumb. On examination, she was an attractive Indian girl of normal habitus. Except for a mild pectus excavatum, the only abnormality was the presence of an accessory thumb on the flexor surface of the first metacarpal. This had a normally-formed nail, and had apparently normal sensation and circulation, but was fixed in flexion and could not be moved actively or passively. (Fig. 1). General physical examination and examination of the blood and urine were normal. The leucocyte culture (J. A. McKeown, The Kennedy-Galton Centre for Clinical Genetics) revealed a chromosome count of 2n = 46, and a chromosome analysis of 46,XX; the Jcaryotype of a female with no detectable abnormality. The chest X-ray was normal, apart from findings suggesting pectus excavatum. An X-ray of both hands (Fig. 2) revealed an accessory right thumb, lacking only the distal interphalangeal joint, and about one-half of the size of the normal thumb to which it was attached just distal to the proximal end of the first metacarpal. Under Bier's block anaesthesia the accessory thumb was excised. The patient achieved a good cosmetic result and proceeded with her wedding plans. DISCUSSION
Apart from its appearance, and in medieval times, the suspicion that the owner was a witch (Evans) (Anne Boleyn was said to have an extra digit), an extra digit has generally been associated with congenital heart disease (Jorgenson, 1974) or other abnormalities (Rykka and Paletta, 1970). An off-line bibliographic citation list generated by the British Library Automated Information Service (BLAISE) for the years 1968-78 has failed to produce a reported coexistence of polydactyly and pectus J. H. Kennedy, M. D., F.A.C.5., WembleyHospital, wembley, Middlesex, London NW10 22
The Hand-- Volume 15
No. 1
1983
Pectus Excavatum and Polydactyly; An Innocent Syndrome J. H. Kennedy
Fig. 1. Right hand, showing extra thumb.
Fig. 2 X-ray of both hands, revealing accessory right thumb smaller than the normal one to which it is attached, and lacking a distal interphalangeal joint. The Hand--Volume 15
No. 1
1983
23
Pectus Excavatum and Polydactyly; A n lnnocent Syndrome J. H. Kennedy
excavatum. One must accept that since neither is serious by itself, cases may not have been reported. It is suggested that when such cases are seen, the patients may be reassured, both about lack of associated congenital abnormalities, and absence of genetic abnormalities. ACKNOWLEDGEMENT Th e a u t h o r wishes to a c k n o w l e d g e with t h a n k s the help o f P. P. M a c R i d l e r , P h D . a n d t h e s t a f f o f T h e K e n n e d y - G a l t o n C e n t r e F o r Clinical Genetics for p r o v i d i n g the c h r o m o s o m e analyses in this case, a n d Mrs. N. W h i t s e d , L i b r a r i a n , C h a f i n g Cross H o s p i t a l M e d i c a l S c h o o l f o r p r o v i d i n g an o f f - l i n e B L A I S E literature search.
REFERENCES EVANS Miss A. Dept. Personal communication, Medieval & Later Antiquities, British Museum. JORGENSON, R. J. (1974) Hands in heritable syndromes: a photographic review. Birth Defects: Original Article Series: 10(5): 177-191. POZNANSKI, A. K., GARN, S. M. and HOLT, J. F. (1971). The Thumb in the Congenital Malformation Syndromes, Radiology, 100: 115-129. POZNANSKI, A. K., STERN, A., GALL, J. Jr., SARBOR, A. (1973). The Upper Limb Cardiovascular Syndrome. American Journal of Diseases of Children, 125: 622-623. RAINER, W. G., SADLER, T. R, Jr. DIRKS, D. W. and SWAN, H. II (1972) Holt-Oram Syndrome. Surgical implications. The Journal of Thoracic and Cardiovascular Surgery, 63:478-481. RYBKA, F. J. and PALETTA, F. X. (1970). Anomalies Associated With Congenital Deformities Of The Thumb. Plastic and Reconstructive Surgery 46:572-576. SANZ, G. NADAL-GINARD, B., MATA, L. A., BUENTELLO, L. (1973). The Upper LimbCardiovascular Syndrome (Holt-Oram Sridrome). A Survey and a Report of Four cases. Clinical Pediatrics, 12: 687-691. YUJNOVSKY, O. AYALA, D., VINCITORIO, A., VIALE, H. SAKATI, N., and NYHAN, W. L. (1974) A syndrome of polydactyly-syndactyly and triphalangeal thumbs in three generations. Clinical Genetics 6: 51-59.
24
The H a n d - - Volume 15
No. 1
1983
J. H. KENNEDY, L o n d o n SUMMARY
A number o f potentially serious congenital cardiac defects are associated with polydactyly. O f these, the best-known is that o f Holt-Oram (Sanz 1973; Poznanski et al 1971, 1973) because o f its surgical implications, described by Rainer (1972). Familial association has been reported by Yujnovsky (1974) with Polydactyly in three generations. It is the purpose o f this report to record a case o f accessory thumb and pectus excavatum in an otherwise healthy young woman o f normal karyotype who asked that the extra thumb be removed f o r Cosmetic reasons. CASE REPORT
A nineteen year old Indian woman from Kenya was referred with an accessory right thumb. She knew of no other blood relations with congenital defects, and so far as she had been told, there were no unusual aspects to her mother's pregnancy. Apart from the accessory right thumb, which she had learned to conceal in longsleeved garments, she was considered a normal child, and had a normal development. She was trained as a computer operator in London, and it was only when she contemplated marriage that she sought removal of the extra thumb. On examination, she was an attractive Indian girl of normal habitus. Except for a mild pectus excavatum, the only abnormality was the presence of an accessory thumb on the flexor surface of the first metacarpal. This had a normally-formed nail, and had apparently normal sensation and circulation, but was fixed in flexion and could not be moved actively or passively. (Fig. 1). General physical examination and examination of the blood and urine were normal. The leucocyte culture (J. A. McKeown, The Kennedy-Galton Centre for Clinical Genetics) revealed a chromosome count of 2n = 46, and a chromosome analysis of 46,XX; the Jcaryotype of a female with no detectable abnormality. The chest X-ray was normal, apart from findings suggesting pectus excavatum. An X-ray of both hands (Fig. 2) revealed an accessory right thumb, lacking only the distal interphalangeal joint, and about one-half of the size of the normal thumb to which it was attached just distal to the proximal end of the first metacarpal. Under Bier's block anaesthesia the accessory thumb was excised. The patient achieved a good cosmetic result and proceeded with her wedding plans. DISCUSSION
Apart from its appearance, and in medieval times, the suspicion that the owner was a witch (Evans) (Anne Boleyn was said to have an extra digit), an extra digit has generally been associated with congenital heart disease (Jorgenson, 1974) or other abnormalities (Rykka and Paletta, 1970). An off-line bibliographic citation list generated by the British Library Automated Information Service (BLAISE) for the years 1968-78 has failed to produce a reported coexistence of polydactyly and pectus J. H. Kennedy, M. D., F.A.C.5., WembleyHospital, wembley, Middlesex, London NW10 22
The Hand-- Volume 15
No. 1
1983
Pectus Excavatum and Polydactyly; An Innocent Syndrome J. H. Kennedy
Fig. 1. Right hand, showing extra thumb.
Fig. 2 X-ray of both hands, revealing accessory right thumb smaller than the normal one to which it is attached, and lacking a distal interphalangeal joint. The Hand--Volume 15
No. 1
1983
23
Pectus Excavatum and Polydactyly; A n lnnocent Syndrome J. H. Kennedy
excavatum. One must accept that since neither is serious by itself, cases may not have been reported. It is suggested that when such cases are seen, the patients may be reassured, both about lack of associated congenital abnormalities, and absence of genetic abnormalities. ACKNOWLEDGEMENT Th e a u t h o r wishes to a c k n o w l e d g e with t h a n k s the help o f P. P. M a c R i d l e r , P h D . a n d t h e s t a f f o f T h e K e n n e d y - G a l t o n C e n t r e F o r Clinical Genetics for p r o v i d i n g the c h r o m o s o m e analyses in this case, a n d Mrs. N. W h i t s e d , L i b r a r i a n , C h a f i n g Cross H o s p i t a l M e d i c a l S c h o o l f o r p r o v i d i n g an o f f - l i n e B L A I S E literature search.
REFERENCES EVANS Miss A. Dept. Personal communication, Medieval & Later Antiquities, British Museum. JORGENSON, R. J. (1974) Hands in heritable syndromes: a photographic review. Birth Defects: Original Article Series: 10(5): 177-191. POZNANSKI, A. K., GARN, S. M. and HOLT, J. F. (1971). The Thumb in the Congenital Malformation Syndromes, Radiology, 100: 115-129. POZNANSKI, A. K., STERN, A., GALL, J. Jr., SARBOR, A. (1973). The Upper Limb Cardiovascular Syndrome. American Journal of Diseases of Children, 125: 622-623. RAINER, W. G., SADLER, T. R, Jr. DIRKS, D. W. and SWAN, H. II (1972) Holt-Oram Syndrome. Surgical implications. The Journal of Thoracic and Cardiovascular Surgery, 63:478-481. RYBKA, F. J. and PALETTA, F. X. (1970). Anomalies Associated With Congenital Deformities Of The Thumb. Plastic and Reconstructive Surgery 46:572-576. SANZ, G. NADAL-GINARD, B., MATA, L. A., BUENTELLO, L. (1973). The Upper LimbCardiovascular Syndrome (Holt-Oram Sridrome). A Survey and a Report of Four cases. Clinical Pediatrics, 12: 687-691. YUJNOVSKY, O. AYALA, D., VINCITORIO, A., VIALE, H. SAKATI, N., and NYHAN, W. L. (1974) A syndrome of polydactyly-syndactyly and triphalangeal thumbs in three generations. Clinical Genetics 6: 51-59.
24
The H a n d - - Volume 15
No. 1
1983