Abstract. The familial type of congenital split-hand associated with aplasia of the tibia is a very rare anomaly. Moreover, bilateral involvement of the hands and ...
Pediatric Radiology
Pediatr Radiol (1989) 19:258-260
© Springer-Verlag 1989
Bilateral split-hand with bilateral tibial aplasia R. N. Sener, E. Isikan, H.B. Diren, B.S. Sayli and F. Sener Department of Radiology, Ondokuzmayis University, Faculty of Medicine, Samsun, Turkey
lateral split-hand without leg involvement. Considering bilateral bony involvement of the hands together with the legs, the case reported here becomes the fourth one in the literature.
Abstract. The familial type of congenital split-hand associated with aplasia of the tibia is a very rare anomaly. Moreover, bilateral involvement of the hands and legs of the individual case is much rarer. In this paper, a case showing bilateral split-hand associated with bilateral tibial aplasia is presented, being the fourth case reported in the literature. The relevant literature is also reviewed.
Case report Our case (pedigree no: V-5, Fig. 1) was an 19-year-old man living in a country region of Turkey. He was mentally normal. Routine laboratory tests, electrocardiogram, abdominal sonography and x-ray studies of the chest, head, vertebrae and upper extremities, except the hands, were all normal. The chromosome karyotype was also normal. His parents were consanguinous also having 5 other but normal children. The dead grand grandfather (I-I), was described as having grossly deformed legs with a unilateral splithand. Another relative of our case whose parents were not consanginous (IV-I) was also described as having unilateral splithand without leg involvement and died of an infectious disease when she was about 2-years-old. The skeletal changes were as follows in our patient: The hands. The right hand had 5 normal metacarpals with 4 normal fingers. The distal and middle phalanges of the 3rd finger were absent and the proximal phalanx was rudimentary. The changes were more prominent in the left hand. The left 3rd metacarpal was rudimentary and the related phalanges were absent, the 4th and 5th metacarpals were fused and the 5th proximal phalanx was absent. The 4th fingers of both hands showed flexion contracture distal to the proximal interphalangeal joints. The carpals of both hands were normal (Fig. 2). The pelvis and the lower extremities. The iliac wings were bilaterally hypoplastic,
Roberts [•], reported a family demonstrating the association of split-hand with tibial aplasia. Three of the five cases showing the anomaly were seen by him. A mother, the sole deformity of whom was unilateral split-hand, had three children; two by different husbands with missing tibias and without bony hand anomalies; and she had a normal child. He also described two grandfathers who hadn't been alive at that time; one with grossly deformed legs and missing forearms, and the other only with unilateral split-hand. Der Kaloustian and Mnaymneh [2] reported a case showing unilateral splithand with bilateral tibial aplasia and several associated bony anomalies, and cited that a relative of that case had had identical anomalies. Takahashi et al. [3] reported four cases in a family; three of whom having bilateral split-hand together with bilateral tibial aplasia, and the fourth one showing bi-
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R.N. Sener et al.: Bilateral split-hand with bilateral tibial aplasia
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Fig.2. P-A radiograph of the hands shows the typical split-hand deformity. Essentially the middle rays are deficient. The left 4th and 5th metacarpals are also fused, and 5th proximal phalanx is absent. Both 4th fingers show flexion contracture distal to proximal interphalangeal joints
Fig.3. A-P radiograph of the pelvis shows bilateral h2c~oplasia of the iliac wings and coxa valga deformity
Fig.4a, b. Lateral radiographs of the right and left leg. Both tibiae are absent, The fibulae are short, bowed and proximally luxated. The calcanei and vertically positioned tali are fused and
delbrmed, naviculars and cuboids are present while all the cuneiforms are missing. Both patellas are luxated and hypoplastic, around the right knee (a) 3 more ossification centers are present
260 Table L
R.N. Sener et al.: Bilateral split-hand with bilateral tibial aplasia Anomalies and syndromes associated with split-hand
(4) a) Anomalies Cleft lip and palate Ectodermal defects Anonychia Ear abnormality Deafness Eye abnormality Cataracts Cyclopia Nystagmus Limb abnormalities Cleft foot Clubfoot and other anomalies Bifid Femur Tibial aplasia Radioulnar synostosis Gastrointestinal anomaly Imperforate anus Genitourinary anomalies Fusion Absent pectoralis major muscle Pseudoarthrosis, clavicle b) Syndromes Acral-renal assodation Aglossia-adactylia Ankyloglossia superior EEC (Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome) Ives-Houston Mandibulofacial dysostosis Mrbius Pseudothalidomide Unilateral ectromelia-ichthyosis
There was bilateral coxa valga deformity of otherwise normally formed femurs (Fig.3). Both tibiae were missing. The single long bones of the legs resembling fibulae by the appearance of their epiphyseat portion were short, bowed and proximally luxated. At the distal side they articulated with deformed calcanei. Both patellas were luxated and hypoplastic and there were 3 more ossification centers around the fight knee (Fig.4a, b). The calcanei and vertically positioned tall were fused and deformed. The navicular and cuboid bones were present while the cuneiforms were absent. One ray of each foot were missing and all of the digits (4 rays) show flexion contracture (Fig.4a, b).
Discussion
The cause of the anomaly is usually attributed to a single dominant gene with reduced penetrance and variable expressivity, and parental consanguinity does not seem to be relevant [1, 2, 4]. The family pedigree of our case also suggests such a pattern of inheritance (Fig. 1). The expression of the anomaly is quite variable ranging from unilateral hand bone changes to gross anomalies in a family [1-4]. Among these, the case
described by Roberts with grossly deformed legs and missing forearms probably had had the worst changes [1]. Unilateral predominancy to some extent is also evident in the reported cases. This is best demonstrated by Der Kaloustian's case who had considerable delay in the ossification centers on the right side of the body. The right ilium was hypoplastic; the right capital femoral epiphysis, the right talus and 1st metatarsal were absent and the splithand deformity was in the right hand while there was not any bony anomaly in the left hand [2]. Slight unilateral predominancy was also present with Takahashi's 3 cases of bilateral hand and leg involvement [3]. Our case also showed slight unilateral predominancy - the split-hand deformity being less severe in the right and 3 more ossification centers being present around the right knee. Flexion contracture, of the hands and lower extremities is also cited in the previously reported cases [1-3]. This is the same for ours, involving both 4th fingers and all of the toes (4 rays.). The 3rd digit is cited to be most commonly deficient in isolated cases of split-hand as well as in the cases combined with tibial aplasia [1-4]. This is also similar for our case. Symmetrical bizarre changes of the tarsal bones with bilateral 4 rays of the feet, and the existence of bilateral iliac bone hypoplasia are associated features of our case. A number of anomalies and syndromes have been reported to be associated with split-hand. These are given as a table by Poznanski [4] (Table I). Except from the expressed features of his specific anomaly, our case did not manifest any of the anomalies and syndromes listed on Table 1. It becomes the fourth case presented in the literature, beside those 3 cases reported by Takahashi [3]. References 1. Roberts JAF (1967) Genetic prognosis. In: An introduction to medical genetics, 5th edn. Oxford University Press, London, pp 256-283 2. Der KalousfianV, MnaymnehWA (1973) Bilateral tibial aplasia with lobster-claw hands. Acta Paediatr Scand 62:77 3. Takahashi T, Yamamoto M, Mochizuki Y (1968) Four cases of bilateral split-hand with bilateral aplasia of the tibia in a family. Orthop Sci (Tokyo) 19:95 4. Poznanski AK (1984) The hand in radiologic diagnosis, vol 1, 2nd edn. Saunders, Philadelphia, Pa., pp 252-256 Received: 15 November 1987; accepted: 20 December 1987 Dr. R, N. Sener Cumhuriyet cad, 0zgtir sok. no.: 4 Isparta 32100 Turkey
