American Journal of Medical Genetics 36:521-522 (1990)
Letter to the Editor
Femoral Duplication and the Developmental Field To the Editor: In this Journal Pavone et al. [19891 and Bodurtha et al. [19891reported on 3 infants who showed gross developmental disorders of the lower limbs with oligo- or polydactyly, tibia1 or fibular hemimelia, and various degrees of femoral duplication or bifurcation. Taken as single observations these cases increase the heterogeneous bulk of case descriptions rather than help the student of diplomelia to delineate particular patterns and specific causes and to understand details and even real or apparent exceptions of the heuristic concept of developmental field. Some profit is expected from the analysis of higher degree of duplication (“three-legged individuals”) which was present in the patient studied by Bodurtha et al. [19891. This may be associated with malformations of the caudal regression type such as genitourinary and spinal anomalies in addition to abnormalities of the pelvic girdle. We wonder why the paper of Weisselberg et al. [19881was not quoted, which deals with the case of a 19-month-oldgirl with partially duplicated left leg and 3 digits, agenesis of the ipsilateral kidney, and some minor abnormalities. The authors quoted 2 more cases from the literature. Although we do not agree with the proposal that this association represents a “new syndrome” (rather a sequence), we think that these cases must be considered further and analyzed more fully to complete the spectrum of malformations of a teratological range. The note of Winter and Donnai [1989] therefore appeared at the right moment, containing, as it does, a list of similar cases from the literature, although the personal observation lacks either clinical or X-ray findings. The disorganisation mutant in the mouse they refer to is an interesting model to keep in mind. While, as the authors mention, it is common to overdiagnose human patients it may be helpful to trace the cause and origin of strictly unilateral malformations and to elucidate “developmental resistance,’’ which had been proposed by Wiedemann and Opitz [19831. Since, nevertheless, anatomical case reports are still needed, we anticipate fur-
Received for publication September 14, 1989; revision received November 27, 1989. Address reprint requests to Prof. Dr. R.A. Pfeiffer, Institut fur Humangenetik der Friedrich-Alexander Universitat, ErlangenNunberg, Schwabachanlage 10,8520 Erlangen, Federal Republic of Germany.
0 1990 Wiley-Liss, Inc.
Fig. 1. Drawn after Figures 3 and 4 from Nitsche [1931].
ther discussion in brief summaries of personal observations and a lesser-known similar cases published long ago. Nitsche [19311 (Fig. 1) reported on a 2-year-old girl with duplication of the left distal portion of the iliac bone (il)including the acetabulum (ac).While the puboischial bones (pi) appear normal, the radiograph suggests a second 0s ischii (is)and partial 0s pubis (pb). One single femur was thickened and incurved and only one tibia was noted. However, 2 fibulae were present. Seven irregularly inserted toes were thought t o be 1.2.3.4-4.3.2. This formula is not uncommon in mirror-duplicated feet [Pfeiffer and Roeskau, 19711. No malformation of the urinary tract was mentioned. We have examined a boy (AS 8703311,the second child of unrelated healthy parents, both age 33, who had a duplication of the left leg associated with a cloaca1 exstrophy and partial duplication of the bladder, ureters, of the ipsilateral kidney, and even of the penis. There was hypospadias. The rectum was also partially duplicated. Radiographs showed 2 femora articulating with the hip joints of duplicated pelvic bones and 2 fibulae but
522
Pfeiffer et al. only one tibia. Moreover, there were 9 irregularly inserted toes. One of them, on the tibial side, looked like a hallux. Minor anomalies were seen a t the lower spine and there was fusion of the 3rd and 4th ribs. After surgical correction of the cloaca1malformation the child is developing normally. The additional bones will be removed later. The anatomical findings are sketched in Figure 2.
REFERENCES Bodurtha J , Coutinho M, Benator R, Nogi J, Sholley M, Nance WE (1989): Femoral duplication: A case report. Am J Med Genet 33:165-169. Nitsche F (1931) Doppelmissbildungder unteren Extremitat mit fibularem Zusammenhang. Z Orthop Chir 55:384-389. Pavone L, Viljoen D, Ardito S, Rizzo R, Neri G, Long0 G, Beighton P (989):Two rare developmental defects of the lower limbs with confirmation of the Lewin and Opitz hypothesis on the fibular and tibial developmental fields. Am J Med Genet 33:161-164. Pfeiffer RA, Fbeskau M (1971): Agenesie der Tibia, Fibulaverdoppelung und spiegelbildliche Polydaktylie (Diplopodie) bei Mutter und Kind. Z Kinderheilkd 111:38-50. Weisselberg B, Ben-Ami T, Goodman RM (1988):Partial duplication of the lower limb with agenesis of ipsilateral kidney-a new syndrome: Report of a case and review of the literature. Clin Genet 33:234-239. Wiedemann HR, Opitz JM (1983):Unilateral partial tibia defect with preaxial polydactyly, general micromelia, and trigonoacrocephaly with a note on “developmental resistance.” Am J Med Genet 14:467-471. Winter RM, Donnai D (1989): A possible human homologue for the mouse mutant disorganisation. J Med Genet 26:417-420.
Fig. 2. Sketch of radiograph of the left duplicated leg in a 4-monthold boy.
R.A. Pfeiffer J. Suess Institut fur Humangenetik; K.M. Schrott Urologische Klinik; Universitat Erlangen-Nurnberg Erlange, Federal Republic of Germany
Letter to the Editor
Femoral Duplication and the Developmental Field To the Editor: In this Journal Pavone et al. [19891 and Bodurtha et al. [19891reported on 3 infants who showed gross developmental disorders of the lower limbs with oligo- or polydactyly, tibia1 or fibular hemimelia, and various degrees of femoral duplication or bifurcation. Taken as single observations these cases increase the heterogeneous bulk of case descriptions rather than help the student of diplomelia to delineate particular patterns and specific causes and to understand details and even real or apparent exceptions of the heuristic concept of developmental field. Some profit is expected from the analysis of higher degree of duplication (“three-legged individuals”) which was present in the patient studied by Bodurtha et al. [19891. This may be associated with malformations of the caudal regression type such as genitourinary and spinal anomalies in addition to abnormalities of the pelvic girdle. We wonder why the paper of Weisselberg et al. [19881was not quoted, which deals with the case of a 19-month-oldgirl with partially duplicated left leg and 3 digits, agenesis of the ipsilateral kidney, and some minor abnormalities. The authors quoted 2 more cases from the literature. Although we do not agree with the proposal that this association represents a “new syndrome” (rather a sequence), we think that these cases must be considered further and analyzed more fully to complete the spectrum of malformations of a teratological range. The note of Winter and Donnai [1989] therefore appeared at the right moment, containing, as it does, a list of similar cases from the literature, although the personal observation lacks either clinical or X-ray findings. The disorganisation mutant in the mouse they refer to is an interesting model to keep in mind. While, as the authors mention, it is common to overdiagnose human patients it may be helpful to trace the cause and origin of strictly unilateral malformations and to elucidate “developmental resistance,’’ which had been proposed by Wiedemann and Opitz [19831. Since, nevertheless, anatomical case reports are still needed, we anticipate fur-
Received for publication September 14, 1989; revision received November 27, 1989. Address reprint requests to Prof. Dr. R.A. Pfeiffer, Institut fur Humangenetik der Friedrich-Alexander Universitat, ErlangenNunberg, Schwabachanlage 10,8520 Erlangen, Federal Republic of Germany.
0 1990 Wiley-Liss, Inc.
Fig. 1. Drawn after Figures 3 and 4 from Nitsche [1931].
ther discussion in brief summaries of personal observations and a lesser-known similar cases published long ago. Nitsche [19311 (Fig. 1) reported on a 2-year-old girl with duplication of the left distal portion of the iliac bone (il)including the acetabulum (ac).While the puboischial bones (pi) appear normal, the radiograph suggests a second 0s ischii (is)and partial 0s pubis (pb). One single femur was thickened and incurved and only one tibia was noted. However, 2 fibulae were present. Seven irregularly inserted toes were thought t o be 1.2.3.4-4.3.2. This formula is not uncommon in mirror-duplicated feet [Pfeiffer and Roeskau, 19711. No malformation of the urinary tract was mentioned. We have examined a boy (AS 8703311,the second child of unrelated healthy parents, both age 33, who had a duplication of the left leg associated with a cloaca1 exstrophy and partial duplication of the bladder, ureters, of the ipsilateral kidney, and even of the penis. There was hypospadias. The rectum was also partially duplicated. Radiographs showed 2 femora articulating with the hip joints of duplicated pelvic bones and 2 fibulae but
522
Pfeiffer et al. only one tibia. Moreover, there were 9 irregularly inserted toes. One of them, on the tibial side, looked like a hallux. Minor anomalies were seen a t the lower spine and there was fusion of the 3rd and 4th ribs. After surgical correction of the cloaca1malformation the child is developing normally. The additional bones will be removed later. The anatomical findings are sketched in Figure 2.
REFERENCES Bodurtha J , Coutinho M, Benator R, Nogi J, Sholley M, Nance WE (1989): Femoral duplication: A case report. Am J Med Genet 33:165-169. Nitsche F (1931) Doppelmissbildungder unteren Extremitat mit fibularem Zusammenhang. Z Orthop Chir 55:384-389. Pavone L, Viljoen D, Ardito S, Rizzo R, Neri G, Long0 G, Beighton P (989):Two rare developmental defects of the lower limbs with confirmation of the Lewin and Opitz hypothesis on the fibular and tibial developmental fields. Am J Med Genet 33:161-164. Pfeiffer RA, Fbeskau M (1971): Agenesie der Tibia, Fibulaverdoppelung und spiegelbildliche Polydaktylie (Diplopodie) bei Mutter und Kind. Z Kinderheilkd 111:38-50. Weisselberg B, Ben-Ami T, Goodman RM (1988):Partial duplication of the lower limb with agenesis of ipsilateral kidney-a new syndrome: Report of a case and review of the literature. Clin Genet 33:234-239. Wiedemann HR, Opitz JM (1983):Unilateral partial tibia defect with preaxial polydactyly, general micromelia, and trigonoacrocephaly with a note on “developmental resistance.” Am J Med Genet 14:467-471. Winter RM, Donnai D (1989): A possible human homologue for the mouse mutant disorganisation. J Med Genet 26:417-420.
Fig. 2. Sketch of radiograph of the left duplicated leg in a 4-monthold boy.
R.A. Pfeiffer J. Suess Institut fur Humangenetik; K.M. Schrott Urologische Klinik; Universitat Erlangen-Nurnberg Erlange, Federal Republic of Germany
