Congenital Contractural Arachnodactyly for This Condition(L)

BRIEF REPORTS

zation status of children below 5 years in during diseases among nursing students. defined rural population. Indian Pediatr Indian Pediatr 1990, 27: 361-365. 1985, 22: 421-426. 3. Singh H, Kaur L. Awareness about infant 2. Kapil U, Manocha S, Sood AK. Know- feeding among young lady teachers. ledge of nutritive values of foods and diet Indian Pediatr 1990, 27: 861-863.

Congenital Contractural arachnodactyly for this condition(l). CCA Arachnodactyly is characterized by multiple contractures, dolichostenomelia, scoliosis, arachnodactyly and external ear anomalies(l,2). This new syndrome contrasted with Marfan by the absence of eye and heart anomalies(l,2) but with increasing number of cases reported, M.L. Kulkarni occasional association of cardiovascular and C. Suresh Kumar ocular anomalies have been reported in V. Venkataramana patients with CCA(3-5). V.G. George M. Bhagyavathi This paper reports 3 cases of CCA from different sibships and reviews the relevant literature emphasizing points of differentiation between CCA and Marfan's syndrome. Case Reports

Congenital contractural arachnodactyly The 3 subjects were isolated cases from (CCA) is an autosomal dominant disorder of 3 different sibships and were all products of connective tissue, similar in many respects non-consanguineous marriages. The various to Marfan syndrome. Beals and Hecht in clinical features of the 3 cases studied by us 1972 reviewed their patients carrying the are presented in Table I and Figs. 1-4. diagnosis of Marfans syndrome in literature Discussion and delineated a new syndrome(l). They Congenital contractural arachnodactyly introduced the term congenital contractural is an autosomal dominant connective tissue From the Department of Pediatrics, J.J.M. disorder which has emerged as a separate Medical College, Davangere 577 004, entity from Marfan syndrome. In 1972 Karnataka. Beals and Hecht described two new cases Reprint requests: Prof. M.L Kulkarni, 2372, and identified 12 cases of this disorder from M.C.C. "A" Block, Davangere 577 004, literature including the original patient Karnataka. described by Marfan in 1896(1). Subse- Received for publication: December 21, 1993; quently, many affected families(2,3,6) and Accepted: April 30, 1994 some isolated cases with no other member

of the family affected have been this disorder. These contractures are present reported(4,7). The three additional cases at birth and tend to improve spontaneously presented here are all isolated cases. These with age(6). The most frequently involved may represent new mutations. joints are those of the fingers, elbow, knee Our findings in these three cases are and hip. Wrist, ankle and shoulder may also summarized in Table I and compared with be affected(2,6). The motor development of those reported in the literature. Joint these individuals may be delayed because of contractures are the important features of these contractures(2,6,8).

The affected individuals tend to be tall have structural heart defects like VSD, with dolichostenomelia and arachnodactyly. ASD, PDA, etc.(6). Mitral valve prolapse Spinal abnormalities such as kyphosis and observed in some of these patients caused scoliosis are common. When present they no significant problems(6). usually are not congenital but develop later In the recent past, two cases of CCA, and progress with age(6). The neck appears one having a structurally defective heart slightly short. The head and face are appa- who later developed great artery dilata- rently normal but there is a tendency for retrognathia. Crumpled ears are commonly tion^) and the other having aortic root dila- present in these individuals. Other ear tation^) have been reported in two separate abnormalities include crumpled antihelix, studies. These reports make the differentia- prominent crura and partial obstruction of tion of CCA from Marfan syndrome much the concha(2,6). more difficult. In the present study, none of the patients had any cardiac anomaly. It was previously believed that CCA in Ocular anomalies like ectopia lentis, contrast to Marfan syndrome is not asso- high myopia, retinal detachment, iritis and ciated with ocular or cardiac abnormali- glaucoma are common in Marfan syndrome ties(l,2). Subsequently various reports and are found in 80% patients(6), while in proved that serious cardiac abnormalities CCA ocular anomalies are extremely rare. can occur in CCA(2,4,5,9). Aortic aneu- Recently a patient with CCA was reported rysm, aortic regurgitation and mitral valve as having bilateral ectopia lentis(5). Other prolapse are the common cardiac anomalies ocular anomalies reported in the literature seen in Marfan syndrome. However, include keratoconus, iridodonesis and individuals with CCA are more likely to deeply set eyes. In our study, one patient

85 BRIEF REPORTS had ocular anomaly, that of deep set eyes. syndrome and Marfan syndrome(6). Reports show that patients with CCA usu- Although it is relatively easy to distinguish ally have normal intelligence(l). Other CCA from most of these conditions, Marfan anomalies associated with CCA that have syndrome has many clinical features in been reported in literature include common(2,6). Table II presents the dif- Klinefelter syndrome, tracheo esophageal ferentiation points(2,6,ll) between these fistula, duodenal atresia and unilateral limb two syndromes. deficiency(6,10). The differentiation between Marfan and Marked heterogeneity exists in the CCA has become still more difficult after a manifestation of CCA(6). The variability of report documenting these two syndromes in expression is a feature of autosomal domi- a same family(12). Until a biochemical nant inheritance. This variability gives means becomes available to more accu- problems in distinguishing CCA from simi- rately identify CCA, Marfan syndrome and lar ones like Achard syndrome, osteogenesis other connective tissue disorders from one imperfecta, homocystinuria, Stickler another making an accurate diagnosis is

INDIAN PEDIATRICS VOLUME 32-JANUARY 1995 difficult. However, we hope that the recent 7. Travis RC, Shaw DG. Congenital advances in medical genetics localizing contractural arachnodactyly. Br J Radiol 1985,58:1115-1117. Marfan syndrome to chromosome No. 15, and evidence regarding the role of abnormal 8. Langenskiold A. Congenital contractural fibrillin protein in its pathogenesis will open arachnodactyly. Report of a case and of an new doors in this direction(13,14). operation for knee contracture. J Bone Joint Surg (British) 1985, 67-B: 44-46. REFERENCES 9. Gruber MA, Graham TP, Engle E, Smith 1. Hecht F, Beals RK. "New" syndrome of C. Marfan syndrome with contractural congenital contractural arachnodactyly arachnodactyly and severe mitral regurgi- originally described by Marfan in 1896. tation in a premature infant. J Pediatr Pediatrics 1972, 49: 574-579. 1978, 93: 80-82.

2. Beals RK, Hecht F. Congenital contractural arachnodactyly. A heritable 10. Cole TRP, Hughes HE. Congenital disorder of connective tissue. J Bone Joint contractural arachnodactyly with unila- Surg 1971, 53-A(5): 887-903. teral lower limb deficiency. Am J Med Genet 1992, 44: 72-74. 3. Anderson RA, Koch S, Camerini-Otero RDC. Cardiovascular findings in congeni- 11. Hecht F. Uncommon children and com- tal contractural arachnodacyly: Report of mon care. J Pediatr 1981, 98: 594-595. an affected kindred. Am J Med Gent 1984, 18: 265-271. 12. Bass HN, Sparkes RS, Crandal BF, Marcy SM. Congenital contractural arachno- 4. Macnab AJ, D'orsogna L, Cole DEC, dactyly, keratoconus and probable Marfan Baguley PE, Adderley RJ, Pateson MWH. syndrome in the same pedigree. J Pediatr Cardiac anomalies complicating congeni- 1981, 98: 591-593. tal contractural arachnodactyly. Arch Dis Child 1991, 66: 1143-1146. 13. Kainulainen K, Pulkkinen, L, Savolainen 5. Bawle E, Quigg MH. Ectopia lentis and A, Kaitila I, Peltonen L. Location on chro- aortic root dilatation in congenital mosome 15 of the gene defect causing contractural arachnodactyly. Am J Med Marfan syndrome. N Engl J Med 1990, Genet 1992, 42: 19-21. 323: 935-939. 6. Arroyo MAR, Weaver DD, Beals 14. Hollister DW, Godfrey M, Sakai LY, RK. Congenital contractural arachno- Pyeritz RE. Immunohistologic abnormali- dactyly. Report of four additional families ties of the microfibrillar fiber system in and review of literature. Clin Genet 1985, the Marfan syndrome. N Engl J Med 27: 570-581. 1990, 323: 152-159.