- Email: [email protected]
Hypoplasia of the second metacarpal in mother and daughter
Volume 81 Number 6
Brie[ clinical and laboratory observations
6. patrizi, G., Middlekamp, J. N., Herweg, J. C., and Thornton, H. K.: Human cytomegalovirus: Electron microscopy o f a primary viral isolate, J. Lab. Clin. Med. 65: 825, 1965. 7. Remington, J. S., Miller, M. J., and Brownlee, I.: IgM antibodies in acute toxoplasmosis. I. Diagnostic significance in congenital cases and a method for their rapid demonstration, Pediatrics 41: 1082, 1968. 8. Monif, G. R. G. : In Viral infections of the human fetus, London, 1969, Collier-Macmillan, Ltd., p. 2.
Hypoplasia of the second metacarpal in mother and daughter Lewis B. Holmes, M.D., and J o h n P. R e m e n s n y d e r , M.D., Boston, Mass.
A M o N c the recorded lists of hereditary malformations of the h a n d , there is no m e n tion of hypoplasia of the second metacarpal?, 2 W e have studied a mother a n d her daughter both of whom have marked shortening of either one or both second metacarpals with a lack of ossification of the midportion. Surgical t r e a t m e n t in the preschool years is indicated for this deformity. CASE R E P O R T S The proposlta was brought to our attention when she was admitted for surgical correction of From the Genetics Unit of the Children's Service and the Plastic Surgery Division of the Department of Surgery, Massachusetts General Hospital, and the Department o[ Pediatrics and Surgery, Harvard Medical School. Supported in part by National Institutes of Health Special Fellowship Number I-FO3H053606-01. Reprint address: Lew~sB. Holmes, M.D.~ Genetics Unit Research 3, MassachusegtsGeneralHospital, Boston, Mass. 02114.
1165
9. Hayes, K., and Gibas, H." Placental cytomegalovirus infection without fetal involvement following primary infection in pregnancy, J. P~DIATR. 79: 401, 1971. 10. Lang, D. J., and Noren, B.: Cytomegaloviremia following congenital infection, J. PEDIATR. 73: 812, 1968. 11. Goldman, R. L., Bank, R. W., and Warner, N. E.: Cytomegalovirus infection of the cervix: An "incidental" finding of possible clinical significance, Obstet. Gynecol. 34: 326, 1969.
short second metacarpals. She was the product of an uncomplicated pregnancy and delivery. Psychomotor development had been entirely normal. Her only physical abnormalities were marked shortening of both second fingers. There were no abnormal dermatoglyphic patterns, except for a transverse palmar crease which was most prominent over the midportion of the second metacarpal. X-rays showed a lack of ossification of the midportion of this metacarpal, shortening of the over-all length, and a normal proximal epiphysis (Fig. 1). There were no deformities of the toes or metatarsals. At the age of three years she underwent surgery on the left hand. The index metacarpal was found to be somewhat dumbbell shaped with a narrow cartilaginous bridge between two ossified ends. The distal end was sufficiently large to split transversely, separate for a distance of 1.2 cm., and insert an appropriately shaped iliac bone graft which was secured with a single Kirsctiner wire. A concomitant soft tissue and intrinsic release was done. Postoperatively the finger has assumed a more Woportionate length. Future plans include a similar procedure on the right index metacarpal and possibly a repeat bone grafting in later years depending o n the growth characteristics of the metacarpals. The mother of this child had a similar shortening of the right second finger. Like her daughter, she had a transverse palmar crease and deep groove in the skin overlying the midportlon of the shortened metacarpal. X-rays showed that she had no ossification of the midportion of the second metacarpal in the right hand (Fig. 2). In view of the operative findings in her daughter we assumed a cartilaginous bridge was present between the ossified areas. She had no other
1 16 6
Brief clinical and laboratory observations
The Journal o[ Pediatrics December 1972
Fig. 1. X-ray of the hands of the proposita at 11~ years showing short second metacarpals with an area of no ossification in the midportion.
Fig. 2. X-ray of the mother's hands showing shortening and lack of ossification in the midportion of the right second metacarpal. physical abnormalities, specifically no metatarsal abnormalities. Neither the proposlta's younger sister nor either of the mother's sibs ~or parents has a similar deformity. DISCUSSION
We have not found any reports of a similar hereditary deformity of the second meta-
carpal. Barsky s has commented that absence of the metacarpals occurs either as an isolated abnormality or in conjunction with missing digits. H e noted that the "absent" metacarpal of an infant is palpable and subsequently becomes ossified. Shortening of the fourth metacarpal, apparently nonhereditary, has been reported by Bogin. 4 Shortening of the fourth metacarpal in a mother and her
Volume 81 Number 6
Brief clinical and laboratory observations
son was reported by Newcombe and Keats. 5 The deformity was unilateral in the mother (Case 6) and bilateral in her son (Case 8). Shortening of several metacarpals is a feature of patients with brachydactyly, type E, but they also have shortening of the metatarsals, phalanges, and long bones?, 5 Furthermore, in individuals with brachydactyly, type E, the shortening of the digits is not evident at birth and there is no midshaft ossification defect, as in our proposita and her mother (Figs. 1 and 2). Surgical correction of this anomaly has not been reported and none of the reported individuals 3-5 with short metacarpals was treated. The mother of our proposita stated that her own unilateral deformity had been a significant handicap; for this reason she requested treatment for her daughter's hand deformity. Surgery was performed on this young girl because of the beneficial effects of restoring or maintaining normal tendon balance in de-
His bundle recording in progressive external ophtbalmoplegia Jill H. Morriss, M.D.,* George S. Eugster, M.D., James J. Nora, M.D., and
1 16 7
veloping fingers. We believe that surgical correction should be carried out as soon as there is a large enough bony segment to receive a graft without interfering with the presumed growth centers in the cartilaginous segment.
REFERENCES I. Temtamy, S., and MeKusiek, V. A. : Synopsis of hand malformations with particular emphasis on genetics factors, Birth Defects: Original Article Series, 5 (3): 125-184, 1969. 2. McKusick, V. A.: Mendelian inheritance in man, ed. 3, Baltimore, 1971, Johns Hopkins Press. 3. Barsky, A. J.: Congenital anomalies of the hand and their surgical treatment, Springfield, Ill., 1958, Charles C Thomas, Publisher. 4. Bogln, P. R.: Due easi di brachimetapodia isolata del quarto metacarpale, Minerva Orthop. 19: 252, 1969. 5. Newcombe, D. S., and Keats, T. E.: Roentgenographic manifestations of hereditary peripheral dysostosis, Am. J. Roentgenol. Radium Ther. Nucl. Med. 106: 178, 1969.
been the cause of death in at least one teenage patient. 2 Conduction disturbances with the electrocardiographic pattern of left axis deviation and right bundle branch block 1, ~' 4 or isolated left bundle branch block 1 have preceded complete heart block in some instances; however, the time course of progression is not known. The availability of pacemakers to prevent Stokes-Adams attacks
Ray Pryor, M.D., "Denver, Colo.
C O 3/I P L g T ~; heart block with syncope in patients with progressive external ophthalmoplegia has been recognized 1-8 and has From the Division o[ Pediatric Cardiology, Departments of Pediatrics and Medicine, University of Colorado Medical Center. Supported in part by Grant HE-5734, National Heart and Lung Institute, National Institutes of Health. ~Reprint address: Division o[ Pediatric Cardiology. University o[ Colorado Medical Center, 4200 E. Ninth Ave., Denver, Cola. 80220.
Addreviations used PEO: progressive external ophthalmoplegia LAD: left axis deviation RBBB: right bundle branch block LBBB: left bundle branch block in these patients makes desirable an attempt to assess the degree of disease in the conduction system. This report describes the first use of His bundle recordings as an aid in the decision to implant a cardiac pacemaker, thereby preventing symptomatic complete heart block, in a patient with PEO.
Brie[ clinical and laboratory observations
6. patrizi, G., Middlekamp, J. N., Herweg, J. C., and Thornton, H. K.: Human cytomegalovirus: Electron microscopy o f a primary viral isolate, J. Lab. Clin. Med. 65: 825, 1965. 7. Remington, J. S., Miller, M. J., and Brownlee, I.: IgM antibodies in acute toxoplasmosis. I. Diagnostic significance in congenital cases and a method for their rapid demonstration, Pediatrics 41: 1082, 1968. 8. Monif, G. R. G. : In Viral infections of the human fetus, London, 1969, Collier-Macmillan, Ltd., p. 2.
Hypoplasia of the second metacarpal in mother and daughter Lewis B. Holmes, M.D., and J o h n P. R e m e n s n y d e r , M.D., Boston, Mass.
A M o N c the recorded lists of hereditary malformations of the h a n d , there is no m e n tion of hypoplasia of the second metacarpal?, 2 W e have studied a mother a n d her daughter both of whom have marked shortening of either one or both second metacarpals with a lack of ossification of the midportion. Surgical t r e a t m e n t in the preschool years is indicated for this deformity. CASE R E P O R T S The proposlta was brought to our attention when she was admitted for surgical correction of From the Genetics Unit of the Children's Service and the Plastic Surgery Division of the Department of Surgery, Massachusetts General Hospital, and the Department o[ Pediatrics and Surgery, Harvard Medical School. Supported in part by National Institutes of Health Special Fellowship Number I-FO3H053606-01. Reprint address: Lew~sB. Holmes, M.D.~ Genetics Unit Research 3, MassachusegtsGeneralHospital, Boston, Mass. 02114.
1165
9. Hayes, K., and Gibas, H." Placental cytomegalovirus infection without fetal involvement following primary infection in pregnancy, J. P~DIATR. 79: 401, 1971. 10. Lang, D. J., and Noren, B.: Cytomegaloviremia following congenital infection, J. PEDIATR. 73: 812, 1968. 11. Goldman, R. L., Bank, R. W., and Warner, N. E.: Cytomegalovirus infection of the cervix: An "incidental" finding of possible clinical significance, Obstet. Gynecol. 34: 326, 1969.
short second metacarpals. She was the product of an uncomplicated pregnancy and delivery. Psychomotor development had been entirely normal. Her only physical abnormalities were marked shortening of both second fingers. There were no abnormal dermatoglyphic patterns, except for a transverse palmar crease which was most prominent over the midportion of the second metacarpal. X-rays showed a lack of ossification of the midportion of this metacarpal, shortening of the over-all length, and a normal proximal epiphysis (Fig. 1). There were no deformities of the toes or metatarsals. At the age of three years she underwent surgery on the left hand. The index metacarpal was found to be somewhat dumbbell shaped with a narrow cartilaginous bridge between two ossified ends. The distal end was sufficiently large to split transversely, separate for a distance of 1.2 cm., and insert an appropriately shaped iliac bone graft which was secured with a single Kirsctiner wire. A concomitant soft tissue and intrinsic release was done. Postoperatively the finger has assumed a more Woportionate length. Future plans include a similar procedure on the right index metacarpal and possibly a repeat bone grafting in later years depending o n the growth characteristics of the metacarpals. The mother of this child had a similar shortening of the right second finger. Like her daughter, she had a transverse palmar crease and deep groove in the skin overlying the midportlon of the shortened metacarpal. X-rays showed that she had no ossification of the midportion of the second metacarpal in the right hand (Fig. 2). In view of the operative findings in her daughter we assumed a cartilaginous bridge was present between the ossified areas. She had no other
1 16 6
Brief clinical and laboratory observations
The Journal o[ Pediatrics December 1972
Fig. 1. X-ray of the hands of the proposita at 11~ years showing short second metacarpals with an area of no ossification in the midportion.
Fig. 2. X-ray of the mother's hands showing shortening and lack of ossification in the midportion of the right second metacarpal. physical abnormalities, specifically no metatarsal abnormalities. Neither the proposlta's younger sister nor either of the mother's sibs ~or parents has a similar deformity. DISCUSSION
We have not found any reports of a similar hereditary deformity of the second meta-
carpal. Barsky s has commented that absence of the metacarpals occurs either as an isolated abnormality or in conjunction with missing digits. H e noted that the "absent" metacarpal of an infant is palpable and subsequently becomes ossified. Shortening of the fourth metacarpal, apparently nonhereditary, has been reported by Bogin. 4 Shortening of the fourth metacarpal in a mother and her
Volume 81 Number 6
Brief clinical and laboratory observations
son was reported by Newcombe and Keats. 5 The deformity was unilateral in the mother (Case 6) and bilateral in her son (Case 8). Shortening of several metacarpals is a feature of patients with brachydactyly, type E, but they also have shortening of the metatarsals, phalanges, and long bones?, 5 Furthermore, in individuals with brachydactyly, type E, the shortening of the digits is not evident at birth and there is no midshaft ossification defect, as in our proposita and her mother (Figs. 1 and 2). Surgical correction of this anomaly has not been reported and none of the reported individuals 3-5 with short metacarpals was treated. The mother of our proposita stated that her own unilateral deformity had been a significant handicap; for this reason she requested treatment for her daughter's hand deformity. Surgery was performed on this young girl because of the beneficial effects of restoring or maintaining normal tendon balance in de-
His bundle recording in progressive external ophtbalmoplegia Jill H. Morriss, M.D.,* George S. Eugster, M.D., James J. Nora, M.D., and
1 16 7
veloping fingers. We believe that surgical correction should be carried out as soon as there is a large enough bony segment to receive a graft without interfering with the presumed growth centers in the cartilaginous segment.
REFERENCES I. Temtamy, S., and MeKusiek, V. A. : Synopsis of hand malformations with particular emphasis on genetics factors, Birth Defects: Original Article Series, 5 (3): 125-184, 1969. 2. McKusick, V. A.: Mendelian inheritance in man, ed. 3, Baltimore, 1971, Johns Hopkins Press. 3. Barsky, A. J.: Congenital anomalies of the hand and their surgical treatment, Springfield, Ill., 1958, Charles C Thomas, Publisher. 4. Bogln, P. R.: Due easi di brachimetapodia isolata del quarto metacarpale, Minerva Orthop. 19: 252, 1969. 5. Newcombe, D. S., and Keats, T. E.: Roentgenographic manifestations of hereditary peripheral dysostosis, Am. J. Roentgenol. Radium Ther. Nucl. Med. 106: 178, 1969.
been the cause of death in at least one teenage patient. 2 Conduction disturbances with the electrocardiographic pattern of left axis deviation and right bundle branch block 1, ~' 4 or isolated left bundle branch block 1 have preceded complete heart block in some instances; however, the time course of progression is not known. The availability of pacemakers to prevent Stokes-Adams attacks
Ray Pryor, M.D., "Denver, Colo.
C O 3/I P L g T ~; heart block with syncope in patients with progressive external ophthalmoplegia has been recognized 1-8 and has From the Division o[ Pediatric Cardiology, Departments of Pediatrics and Medicine, University of Colorado Medical Center. Supported in part by Grant HE-5734, National Heart and Lung Institute, National Institutes of Health. ~Reprint address: Division o[ Pediatric Cardiology. University o[ Colorado Medical Center, 4200 E. Ninth Ave., Denver, Cola. 80220.
Addreviations used PEO: progressive external ophthalmoplegia LAD: left axis deviation RBBB: right bundle branch block LBBB: left bundle branch block in these patients makes desirable an attempt to assess the degree of disease in the conduction system. This report describes the first use of His bundle recordings as an aid in the decision to implant a cardiac pacemaker, thereby preventing symptomatic complete heart block, in a patient with PEO.