Clinical Genetics 1976: 9: 143-148
Identical tetramelic monodactyly in two brothers J 6 i SVEJCAR, JURGEN KLEINEBRECHT AND KARL-HEINZ DEGENHARDT
Institut fur Humangenetik im Klinikum der J. W. Goethe-Universitat, FrankfurtIMain, Federal Republic of Germany We report almost identical tetramelic monodactyly in two brothers. On the hands and on the feet, only the 5th fingers and the 5th toes were present. Aplastic and hypoplastic defects were found to some degree in the remaining skeletal parts of the hands and feet. All observed deformities were symmetrical. No other defects of either the upper or the lower extremities were found. Both brothers had no other malformations or dysplasias and were apparently of normal intelligence. There were no further cases in the ancestry. Received 27 February, revised 12 May, accepted f o r publication 30 May 1975
Two brothers with almost identical tetramelic monodactyly are described. The younger brother was referred to our clinic for genetic counselling by his physician. With the exception of the malformed brother, no relatives were reported to have any malformations. Thus the pedigree suggests a recessive mode of inheritance. However, the monodactylous malformations have been observed in some cases segregating in an autosomal dominant mode of inheritance.
for the three previous generations. N o accurate information could be obtained about the more remote generations. The propositus and his brother were the only children. A third pregnancy was terminated and no other child followed.
Family History Father: Born in 1913. He had three brothers, all of whom were married and had children. No malformations were known in any of them.
Propositus T.K., male, born July 4th, 1946, came first to our genetic clinic on Dec. 3rd, 1971. He had been referred by his family physician, Dr. Portener, FrankfudMain - Niederursel. He was engaged to be married and was anxious to obtain information about the genetic nature of his defect. The propositus has always been healthy. He is an architect. No dysplastic signs were present except for the malformed hands and feet. H e has learned to use his hands with great skill and has no difficulties in walking.
Mother: Born in 1921. Her only brother was unmarried. No malformations were known in this line either. Consanguinity was denied with certainty
Hands: The highly symmetric hypoplastic malformations were present in the hands only. Neither the lower nor the upper arms showed any signs of abnormal configura-
Description of cases
144
S V E J C A R , K L E I N EB R E C H T A N D 0 E G E N H A R D T
tion. The ulnar side of the hands had a normal configuration. The 5th finger was the only finger present, with contractures of the finger joints. All other fingers were missing. X-ruy (Fig. l a - b): In the carpal region the capitate, the hamate, the lunate, the triquetrium and the pisiform were normal. The trapezium, the trapezoid and the scaphoid were of normal size but abnormal shape. Only four rays were present in the hand, the 1st ray being completely absent. The 2nd metacarpal was only rudimentary, with normal articulation proximally; it had a trigonal form with the tip directed distally. The metacarpals 3-5 were markedly shortened. The 5th metacarpal had an almost normal configuration. The phalanges 1-4 were absent. The proximal, middle and distal phalanx were present in the 5th ray, but they were all slightly to moderately shortened. The
FIg. l a - b. X-ray of hands of the propositus.
configuration was largely normal. A subluxation was present in the first interphalangeal joint of the 5th finger, with an extreme deviation of the distal phalanx radially. The findings were highly symmetrical on both hands. Only the metacarpals 3 and 4 were longer in the right hand.
Feet: In analogy with the hands, the malformations were symmetrical and they were present in the feet only. The rest of the lower extremities showed no signs of malformations. The deformities of the feet were astonishingly similar to the defects of the hands. The fibular side of the feet had a nearly normal shape; in the distal part the 5th toe was bent inwards and cranially. The heel was almost normal. The 5th toe was the only toe present. X-ray (Fig. 2a - d): In the side projection the calcaneum and the talus were well
TETRAMELIC MONODACTYLY IN TWO BROTHERS
Flg. 2a
- d. X-ray of
feet of the propositus.
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Fig. 3a - b. X-ray of hands of the brother of the propositus.
developed and of normal size. Only the 5th ray was present, with a markedly thickened, deformed and long metatarsal with distal tapering. The proximal and the distal phalanx of this ray deviated tibially. The cuboid was massive, and the navicular was of approximately normal size and normal configuration, with a tibia1 orientation. The navicular articulated with a hypoplastic and deformed first cuneiform which was smaller on the left side than on the right. Brother of the Propositus I.K., male, born March 4th, 1944. The birth of this first child with malformations was a shock for the parents. They sought expert advice on the recurrence risk. The risk was then considered t o be low for a sporadic case of a probably new dominant
mutation. The brother of the propositus has always been healthy. He is employed in business. At the time of examination he had been married for 3 years and was not planning to have children, because of the fear that his children would suffer the same hardships he had suffered. His wife shared his opinion. His general physical condition was excellent. He had learned to use his hands with great skill and had no difficulties in walking. No additional malformations were present. Hands and f e e t : The defects of the hands and feet closely resembled the deformities found in the younger brother. For details see the description of the propositus.
X-ray (Fig. 3a
Flg. 4a - d. X-ray of feet of the brother of the propositus.
-
b, 4a
-
d): Only the dif-
TETRAMELIC MONODACTYLY IN TWO BROTHERS
147
148
SVEJCAR, KLEINEBRECHT AND DEGENHARDT
ferences between this case and the propositus will be noted: In the hand the trapezium was absent, the trapezoid and the capitate were fused, the capitate and the navicular were partially fused. The 2nd metacarpal was absent, the clinodactyly was not as severe, the 5th ray was larger and the 3rd metacarpal smaller. In the feet the first cuneiform was not hypoplastic and the cuboid was smaller.
Acknowledgements
We should like to thank Prof. F. Ball, Radiology Center, Klinikum der J. W. Goethe-Universitat, Frankfurt/M. for the X-ray examinations. We are indebted to Miss B. Rehfeld for the photographs.
References Discussion
Tetramelic monodactyly seems to be very rare. Three cases were reported by Werthemann (1952), two of them being father and child. Birch-Jensen (1949) has listed two sporadic cases in his monograph on deformities of the upper extremities in Denmark in the years 1943-47. Monodactyly in two generations was reported by Temtamy & McKusick (1969). Three large pedigrees with tetramelic monodactyly were reported by David (1972). There was no doubt about the autosomal dominant pattern of inheritance in his cases. The possibility of an incomplete penetrance of the gene has been ruled out by Vogel (1958) for the tetramelic split-hand and split-foot malformation. This author explained the recurrences in siblings from pedigrees with no cases in preceding generations on the basis of dominant mosaic germinal mutations. The same mechanism has to be postulated for our cases.
Birch-Jensen, A. (1949). Congenital deformities of the upper extremities. Op. dom. Biol. hered. hum. (Kbh.) 19.
David, T. J. (1972). Dominant ectrodactyly and possible germinal mosaicism. J . med. Genet. 9, 316-320.
Temtamy, S. & V. A. McKusick (1969). Synopsis of hand malformations with particular emphasis on genetic factors. Birth Defects: Original Article Series V , 125-184.
Vogel, F. (1958). Verzogerte Mutation beim Menschen? Ann. hum. Genet. 22, 132-137. Werthemann, A. (1952). Die Entwicklungsstorungen der Extremitaten. In: Handbuch der spezieflen pathologischen Anatomie und Histologie. Bewegungsapparat 1W6. Springer, Berlin-Gottingen-Heidelberg, pp. 365-377.
Address: Prof. Dr. J . Sveicar Institut fur Humangenetik Klinikum der J . W . Goethe-Universitat 6 Frankfurt/Main Paul-Ehrlich-Str. 41 Fed. Rep. Germany
Identical tetramelic monodactyly in two brothers J 6 i SVEJCAR, JURGEN KLEINEBRECHT AND KARL-HEINZ DEGENHARDT
Institut fur Humangenetik im Klinikum der J. W. Goethe-Universitat, FrankfurtIMain, Federal Republic of Germany We report almost identical tetramelic monodactyly in two brothers. On the hands and on the feet, only the 5th fingers and the 5th toes were present. Aplastic and hypoplastic defects were found to some degree in the remaining skeletal parts of the hands and feet. All observed deformities were symmetrical. No other defects of either the upper or the lower extremities were found. Both brothers had no other malformations or dysplasias and were apparently of normal intelligence. There were no further cases in the ancestry. Received 27 February, revised 12 May, accepted f o r publication 30 May 1975
Two brothers with almost identical tetramelic monodactyly are described. The younger brother was referred to our clinic for genetic counselling by his physician. With the exception of the malformed brother, no relatives were reported to have any malformations. Thus the pedigree suggests a recessive mode of inheritance. However, the monodactylous malformations have been observed in some cases segregating in an autosomal dominant mode of inheritance.
for the three previous generations. N o accurate information could be obtained about the more remote generations. The propositus and his brother were the only children. A third pregnancy was terminated and no other child followed.
Family History Father: Born in 1913. He had three brothers, all of whom were married and had children. No malformations were known in any of them.
Propositus T.K., male, born July 4th, 1946, came first to our genetic clinic on Dec. 3rd, 1971. He had been referred by his family physician, Dr. Portener, FrankfudMain - Niederursel. He was engaged to be married and was anxious to obtain information about the genetic nature of his defect. The propositus has always been healthy. He is an architect. No dysplastic signs were present except for the malformed hands and feet. H e has learned to use his hands with great skill and has no difficulties in walking.
Mother: Born in 1921. Her only brother was unmarried. No malformations were known in this line either. Consanguinity was denied with certainty
Hands: The highly symmetric hypoplastic malformations were present in the hands only. Neither the lower nor the upper arms showed any signs of abnormal configura-
Description of cases
144
S V E J C A R , K L E I N EB R E C H T A N D 0 E G E N H A R D T
tion. The ulnar side of the hands had a normal configuration. The 5th finger was the only finger present, with contractures of the finger joints. All other fingers were missing. X-ruy (Fig. l a - b): In the carpal region the capitate, the hamate, the lunate, the triquetrium and the pisiform were normal. The trapezium, the trapezoid and the scaphoid were of normal size but abnormal shape. Only four rays were present in the hand, the 1st ray being completely absent. The 2nd metacarpal was only rudimentary, with normal articulation proximally; it had a trigonal form with the tip directed distally. The metacarpals 3-5 were markedly shortened. The 5th metacarpal had an almost normal configuration. The phalanges 1-4 were absent. The proximal, middle and distal phalanx were present in the 5th ray, but they were all slightly to moderately shortened. The
FIg. l a - b. X-ray of hands of the propositus.
configuration was largely normal. A subluxation was present in the first interphalangeal joint of the 5th finger, with an extreme deviation of the distal phalanx radially. The findings were highly symmetrical on both hands. Only the metacarpals 3 and 4 were longer in the right hand.
Feet: In analogy with the hands, the malformations were symmetrical and they were present in the feet only. The rest of the lower extremities showed no signs of malformations. The deformities of the feet were astonishingly similar to the defects of the hands. The fibular side of the feet had a nearly normal shape; in the distal part the 5th toe was bent inwards and cranially. The heel was almost normal. The 5th toe was the only toe present. X-ray (Fig. 2a - d): In the side projection the calcaneum and the talus were well
TETRAMELIC MONODACTYLY IN TWO BROTHERS
Flg. 2a
- d. X-ray of
feet of the propositus.
145
146
SVEJCAR, KLEINEBRECHT AND DEGENHARDT
Fig. 3a - b. X-ray of hands of the brother of the propositus.
developed and of normal size. Only the 5th ray was present, with a markedly thickened, deformed and long metatarsal with distal tapering. The proximal and the distal phalanx of this ray deviated tibially. The cuboid was massive, and the navicular was of approximately normal size and normal configuration, with a tibia1 orientation. The navicular articulated with a hypoplastic and deformed first cuneiform which was smaller on the left side than on the right. Brother of the Propositus I.K., male, born March 4th, 1944. The birth of this first child with malformations was a shock for the parents. They sought expert advice on the recurrence risk. The risk was then considered t o be low for a sporadic case of a probably new dominant
mutation. The brother of the propositus has always been healthy. He is employed in business. At the time of examination he had been married for 3 years and was not planning to have children, because of the fear that his children would suffer the same hardships he had suffered. His wife shared his opinion. His general physical condition was excellent. He had learned to use his hands with great skill and had no difficulties in walking. No additional malformations were present. Hands and f e e t : The defects of the hands and feet closely resembled the deformities found in the younger brother. For details see the description of the propositus.
X-ray (Fig. 3a
Flg. 4a - d. X-ray of feet of the brother of the propositus.
-
b, 4a
-
d): Only the dif-
TETRAMELIC MONODACTYLY IN TWO BROTHERS
147
148
SVEJCAR, KLEINEBRECHT AND DEGENHARDT
ferences between this case and the propositus will be noted: In the hand the trapezium was absent, the trapezoid and the capitate were fused, the capitate and the navicular were partially fused. The 2nd metacarpal was absent, the clinodactyly was not as severe, the 5th ray was larger and the 3rd metacarpal smaller. In the feet the first cuneiform was not hypoplastic and the cuboid was smaller.
Acknowledgements
We should like to thank Prof. F. Ball, Radiology Center, Klinikum der J. W. Goethe-Universitat, Frankfurt/M. for the X-ray examinations. We are indebted to Miss B. Rehfeld for the photographs.
References Discussion
Tetramelic monodactyly seems to be very rare. Three cases were reported by Werthemann (1952), two of them being father and child. Birch-Jensen (1949) has listed two sporadic cases in his monograph on deformities of the upper extremities in Denmark in the years 1943-47. Monodactyly in two generations was reported by Temtamy & McKusick (1969). Three large pedigrees with tetramelic monodactyly were reported by David (1972). There was no doubt about the autosomal dominant pattern of inheritance in his cases. The possibility of an incomplete penetrance of the gene has been ruled out by Vogel (1958) for the tetramelic split-hand and split-foot malformation. This author explained the recurrences in siblings from pedigrees with no cases in preceding generations on the basis of dominant mosaic germinal mutations. The same mechanism has to be postulated for our cases.
Birch-Jensen, A. (1949). Congenital deformities of the upper extremities. Op. dom. Biol. hered. hum. (Kbh.) 19.
David, T. J. (1972). Dominant ectrodactyly and possible germinal mosaicism. J . med. Genet. 9, 316-320.
Temtamy, S. & V. A. McKusick (1969). Synopsis of hand malformations with particular emphasis on genetic factors. Birth Defects: Original Article Series V , 125-184.
Vogel, F. (1958). Verzogerte Mutation beim Menschen? Ann. hum. Genet. 22, 132-137. Werthemann, A. (1952). Die Entwicklungsstorungen der Extremitaten. In: Handbuch der spezieflen pathologischen Anatomie und Histologie. Bewegungsapparat 1W6. Springer, Berlin-Gottingen-Heidelberg, pp. 365-377.
Address: Prof. Dr. J . Sveicar Institut fur Humangenetik Klinikum der J . W . Goethe-Universitat 6 Frankfurt/Main Paul-Ehrlich-Str. 41 Fed. Rep. Germany
