Congenital contractural arachnodactylyNB Kumta, Simin F Irani, Rita R Sekhri, DV Punwani
Department of Paediatrics, K. E. M. Hospital and Seth G. S. Medical College, Parel, Bombay-400012, India
A case of congenital contractural arachnodactyly is reported for its rarity. It is a recent entity reported first from the United States in 1971. The contractures improve with time but the scoliosis may progress and usually require surgical correction.
Congenital contractural arachnodactyly is a heritable disorder of connective tissue characterized by multiple contractures, arachnodactyly, dolicostenomelia, scoliosis and abnormality of the external ear. Since only 12 kindreds have been reported in the world literature to date, the present case is reported.
A nine year old male child of nonconsanguinous muslim parents was brought to us with a history of flexion deformities of all the four 1i3nbs and failure to gain weight well, since birth.
The flexion deformities of all the four limbs and the hands were noticed at birth, and on the 4th day of life the child was referred to an Orthopaedic Unit where nothing active was done and the child was called for follow up regularly. At this time, he was investigated and the EMG muscle biopsy and nerve conduction studies were found to be within normal limits. The child was given physiotherapy for a period of 4 years and there was a marked improvement in the mobility of the various joints, but the kyphoscoliosis progressed.
He is the second of the three siblings, born at 36 weeks gestation after an uneventful antenatal period. No drugs or irradiation had been given to the mother during pregnancy. The child cried well at birth.
The physical and mental milestones were achieved normally and he attends school regularly and achieves good rank in the class.
On Examination: The patient was around the 10th percentile by weight and the 25th percentile by height. The upper segment measured 54 cms. and the lower segment, 65 cms, giving an upper to lower ratio of 0.83, the normal being 0.93-1 See [Figure 1] on page 184A. The skull circumference was 44 cms and the span to height ratio was 1.05. The patient had an oval face with a small puckered mouth, a high arched palate, with limited extension of the jaw, hypoplasia of the maxillae and a tendency to retrognathia and a short neck. The ears showed a prominent and extra crura on the antihelix leading to partial obliteration of the concha. There was a marked arachnodactyly, with flexion deformities of the proximal interphalangeal joints and a tendency to ulnar deviation See [Figure 2] on page 184A. The thumb was adducted across the palm. Steinberg's thumb sign and Walker's wrist sign were positive; these are also positive in 1-2% of normal individuals. There was limited extension of the elbow and supination was restricted. The shoulders, wrists and hips were normal. There was flexion deformity of the knees, with a long patellar tendon and bowing of the legs. The feet were long with calcaneovalgus deformity and adduction of the forefoot. The calves and other muscle masses were slender, giving the joints a knot-like appearance. The spine showed a marked kyphoscoliosis. The higher functions, cranial nerves, tone and power of muscles and superficial and deep reflexes were all normal.
Examination of the eyes did not reveal any myopia, ectopia lentis or retinal detachment. The media were clear and the tension was normal. Audiogram revealed no conduction deafness of the ear.
The other systems revealed no abnormality.
Routine hemogram, urine and stool examinations were all within normal limits.
Serum Total protein - 6.30 Gm%
Serum Albumin - 3.60 Gm%
Serum Globulin - 2.70 Gm%
Serum Cholesterol - 190 mg %,
Fasting Blood Sugar - 83 Gm%
Urine aminogram-4 aminoacids were present. (Glutamine, alanine, glycine and serine). Toludine blue test on urine for mucopolysaccharide was negative. Urine chromatography showed no spot of hydroxyproline.
Skin biopsy was normal.
EMG and nerve conduction studies were within normal limits.
Spine - progressive kyphoscoliosis. Long bones-slender and gracile. Hands -long and slender metacarpals with a metacarpal index of 14 (normal 5.2).
The nine year old boy came to us with skeletal deformities from birth, so that the diagnosis of arthrogryposis had been entertained. In view of the arachnodactyly, the case was investigated for Marfan's syndrome. The patient did not have cardiovascular or eye involvement and special investigations such as skin biopsy were normal and urinary hydroxyproline excretion was negative.  Arthrogryposis was suspected and ruled out as the deformities of the joints were more proximal and in this case improved with time and the EMG and muscle biopsy were normal.  There was internal rotation at the shoulder joint and external rotation at the hip joint.
The present case clinically fitted in with the diagnosis of congenital contractural arachnodactyly. This entity was described by Beals and Hecht  from U.S.A. in 1971. It is characterized by (1) multiple joint contractures (2) arachnodactyly (3) dolichostenomelia (4) kyphoscoliosis (5) abnormality of the external ears  (6) poor muscle mass, making the joints appear prominent. Spontaneous improvement of contractures with use is the rule, except for scoliosis which may persist or progress. Bone age and mental age are normal and prognosis for longevity is good.
This condition is inherited as an autosomal dominant trait but formes fruste have also been known. In the present case tracing the family for two generations has not revealed any findings similar to the present case. It is postulated as a sporadic case. As expressed by Mckusick,  it requires a continued study by the three pronged clinical, genetic and biochemical approach which will bring further order out of chaos of skeletal disease. [Table 1] representing a spectrum of features common to different entities considered in this case is shown as below.
We are grateful to Dr. C. K. Deshpande, Dean, K. E. M. Hospital for permission to publish this article and we are thankful to Dr. M. L. Saraf, Hon. Asstt. Orth. Surgeon, K. E. M. Hospital for his guidance.
[Figure 1], [Figure 2]