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SYMBRACHYDACTYLY OF HAND
A Case Report with Review of Literature
SANJAY JAIN
Chief Orthopaedic Surgeon, Jabalpur Bone and Joint Clinic, Jabalpur- 482 002 India.
Author presented a case of central and post-axial symbrachydactyly of the hand with a unique cork-bottle shaped proximal phalanges of all fingers. The changes in the configuration of phalanges are at the level of distal end of web of syndactyly without soft tissue constriction. Syndactyly was oblique in direction from upward to downward from index finger to little finger. The middle phalange of index, middle and ring fingers were globular, cylindrical and rectangular in shape respectively. The distal phalange of the little finger was mushroom liked. Symbrachydactyly of the foot is differing from symbrachydactyly of the hand; the anomaly progresses from hypoplasia of the central rays to a deformity of the great toe, but may involve the fifth toe. But the author's case report had same finding in the hand symbrachydactyly. Probably this is such first reported case from India.
INTRODUCTION
Symbrachydactyly denotes associated shortening of the syndactyly digits. Symbrachydactyly is one of the congenital anomalies of the hands and foot, which arises from disturbances of the bony premordium and results in phenotypic finger ray abnormalities. It is not an uncommon congenital anomaly in the hands but rarely affects the feet.
Associated anomalies with syndactyly include webbing of the toes, polydactyly, constriction rings, brachydactyly, cleft feet, haemangioma, absence of muscles, spinal deformities funnel chest and heart disorders. Apert's syndrome and Poland's syndrome characteristically include multiple syndactylies.[6]
CASE REPORT
The M.M., a 10 year old male child with 5th standard, came to General Hospital, Godhra (India) on 29th September 2000 for getting physical handicap certificate for scholarship purpose in the school. On examination, he was found to have short forearm with hypoplastic right hand. Thumb was relatively normal. No constriction band was seen. Central brachydactyly in index, middle and ring fingers and post-axial brachydactyly in little fingers was seen. Syndactyly was noted in the inter-digital space of the 2nd to the 5th finger. Syndactyly was incomplete (fingers are joined from the web to a point proximal to the fingertip) and simple (no common bony elements shared by fingers). Another peculiarity was that syndactylies were in an oblique line manner from upward to downward; from index finger to little finger (Fig. 1). There were no nail defects.
The right forearm was short by 1 1/2" and hand was relatively small by 40 to 50% of contra-lateral part. Other hand and both feet were normal. The haematological examinations did not reveal any abnormality. No other congenital anomaly was found and also of no family history was seen.
X-rays revealed cork-bottle shaped proximal phalange of all fingers, which was more marked in middle and ring finger. With the best of author's knowledge this radiographic appearance of phalanges was first described from Indian continent. The constriction at phalanges head was limited to only bone without soft tissue constriction and the site was the end point of syndactyly in each finger (Fig. 2). It was probably resulted from hypoplasia; these findings should be distinguished from those of constriction ring syndrome. Radiographs demonstrated hypoplastic middle phalanges in the form of globular, cylindrical, rectangular in 2nd, 3rd, 4th finger respectively. Mushroom shaped distal phalange of little finger. 2nd metacarpal was long and broad whereas 3rd and 4th metacarpal was short, thin and irregular. Wrist showed five carpal with absence of triquetrum, pisiform and capitate. Elbow joint was within normal limit (Fig. 3).
Patient's relative refused for operation and believed that it was curse of God and supernatural. They wanted only physical handicap certificate for the purpose of education and social security. Disability certificate issued as per gazette notification, Government of India, vides no. 4-2/83 H.W. III dated 6th August 1986.[3]
of all fingers, which was more marked in middle and ring fingers.
and capitate. Note normal elbow joint.
DISCUSSION
Pol named the anomaly, which is characterized by hypoplastic disturbances centred on the middle phalanges of the central rays with associated syndactyly.[10] Muller first suggested that symbrachydactyly was based on disturbances of the bony praemordium.[8] Typical symbrachydactyly of the hands features unilateral hypoplasia; hypoplasia centred on the middle phalanges of the central rays and associated syndactyly. In author reported case hypoplasia was central and post-axial and all the phalanges were involved.
Blauth and Gekeler extended the concept of symbrachydactyly of the hands and classified symbrachydactyly into 4 types: short finger; atypical cleft hand; monodactyly and peromelia.[1] "Brachysyndactyly" according to Swanson's classification, results from undergrowth Group V.[11] Symbrachydactyly, according to Blauth's classification. has several features which fit into Swanson's classification.[11] However, symbrachydactyly according to Blauth does not necessarily correspond with "Brachysyndactyly" according to Swanson. Swanson has proposed that brachysyndactyly can be categorized as a failure of development, failure of separation of parts, undergrowth (Group I, II and V respectively). Cheng et al classified 578 cases of congenital upper limb anomalies with the system recommended by the International Federation of Societies for Surgery of the Hand (IFSSH).[2] There were 31 cases of Group V undergrowth, in which 6 cases were of Brachysyndactyly.
A number of classifications, differential diagnosis and treatments have been described for symbrachydactyly of the hands by Ogine et al.[9] Miura et al revealed X-rays features of 325 patients, with shortening of the metacarpals and/or phalanges were analyzed and found that it was impossible to fit them into any simple classification.[7]
Uchida et al revealed several differences in the way symbrachydactyly occurs in the feet, compared to the hands.[12] Symbrachydactyly of the feet represents a spectrum of deformities, which at its least severe is characterized by slight hypoplasia centred on the middle phalanges of the central rays, with minimal hypoplasia of the distal phalange and normal nails. More advanced case have moderate hypoplasia of the central rays, hypoplasia of the distal phalanges and some nail defects. But in author's report of a case the findings were same as Uchida et al described in cases of feet. This one is a marked contrast.
Jag Mohan showed in his case report from India of brachydactyly of both hands and feet. Shortening of middle phalanges in index, middle and ring fingers were like author's case but there was no syndactyly and no shortening of the metacarpals.[5]
Hirakawa has reported 125 cases of symbrachydactyly of the hands and described the sequence of events, which results in this deformity.[4]
Symbrachydactyly must be differentiated form other congenital anomalies, particularly when there is marked hypoplasia of the central rays or nubbin-like digits. Symbrachydactyly can be differentiated from cleft hand, which involves defect of the central rays, from congenital constriction ring syndrome and from transverse deficiency.
Symbrachydactyly of the hand is relatively rare. The aetiology, mechanism of development and classification of this condition has not been delineated. Further characterization of symbrachydactyly is necessary.
REFERENCES
1.Blauth W, Gekeler J. Symbrachydacktylien (Beitrag zur Morphologie, Klassifikation and Therapie) Hand Chirurgie 1973; 5 : 121-71
2.Cheng JCY, Chow SK, Leung PC. Classification of 578 cases of congenital upper limb anomalies with the IFSSH system-a 10 years experience. J Hand Surg 1987; 12-A : 1055.
3.Government of India. Guidelines for evaluation of handicapped person. Gazette notification, vides no. 4-2/83 H.W. III: 6th August 1986.
4.Hirakawa M. Differentiation and diagnosis of congenital deformities of the hand with special reference to symbrachydactyly. Jikeikai Med J 1988; 103 : 91-109.
5.Jag Mohan. Brachydactyly in an Indian family. J Med Genet 1969; 6 : 349,
6.Mark TJ, Phillip EW. Congenital anomalies of hand, Crenshaw AH, editor: Campbell's operative orthopaedic Ed 8, St Louis, Mosby-Year Book, Inc. 1992.
7.Miura T, Torii S, Nakamura R. Brachymetacarpia and brachyphalangia. J Hand Surg 1986; 11-A : 829-36.
8.Muller W. Die angeborenen Fehlbildungen der menschlichen Hand. Leipzig: Georg Thieme, 1937.
9.Ogine T, Minami A, Kato H. Clinical features and roentgenograms of symbrachydactyly. J Hand Surg 1989; 14-B : 303-06.
10.Pol R. Brachydactylie, Klinodactylie, Hyperphalangie and ihre Grundlagen. Virchows Arch Path Anat 1921; 229 : 388-530.
11.Swanson AB, Swanson G, Tada K. A classification for congenital limb malformation. J hand Surgery 1983; 8 : 693-702.
12.Uchida T, Kojima T, Hirakawa M. Clinical study of symbrachydactyly of the foot. Br J Plast Surg 1995; 48 : 300-305.
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