Journal of Postgraduate Medicine
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CASE REPORT
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Year : 1990  |  Volume : 36  |  Issue : 1  |  Page : 41-3  

Marfan's syndrome: a neonatal presentation (a case report)

PG Deshpande, MP Dixit, PG Vaidya, SU Wagle, S Irani, RG Deshpande 
 Department of Pediatrics, K.E.M. Hospital, Parel, Bombay, Maharashtra.

Correspondence Address:
P G Deshpande
Department of Pediatrics, K.E.M. Hospital, Parel, Bombay, Maharashtra.




How to cite this article:
Deshpande P G, Dixit M P, Vaidya P G, Wagle S U, Irani S, Deshpande R G. Marfan's syndrome: a neonatal presentation (a case report).J Postgrad Med 1990;36:41-3


How to cite this URL:
Deshpande P G, Dixit M P, Vaidya P G, Wagle S U, Irani S, Deshpande R G. Marfan's syndrome: a neonatal presentation (a case report). J Postgrad Med [serial online] 1990 [cited 2019 Sep 19 ];36:41-3
Available from: http://www.jpgmonline.com/text.asp?1990/36/1/41/875


Full Text




  ::   IntroductionTop


Marfan's syndrome is one of the commonest heritable disorders, with autosomal dominant pattern of inheritance in 85% of cases[5].

From the clinical and pathological alterations it appears to be a connective tissue disorder[7] assumed to be an abnormality in elastin or collagen but conclusive evidence is lacking. On the basis of recent experience, the prevalence of classic Marfan's syndrome is 4 to 60 per 1,00,000 population without racial or ethnic factors. However, the actual prevalence of this syndrome may be considerably greater, in view of variable manifestations[7]. We are herewith presenting a case of Marfan's syndrome with skeletal abnormalities in a newborn, having strong family history.


  ::   Case reportTop


A full term female baby was born to a 28-year-old primigravida, by caesarian section done for transverse lie and lack of progression of labour. The weight of the baby was 3.5 kg. The ante- natal and post-natal periods were uneventful.

There was strong family history of Marfan's syndrome (See [Figure:1]) with mother being a known case. The mother was 172 cm tall, with a span of 183 cm. Her mid-finger length (MFL) was 10 cm and total hand length (THL) was 21.5 cm[1]. She had an atrophy of iris with iridodonesis in the right eve. The lens on that side was dislocated to inferior nasal quadrant and there was a cataract formation. The left eye had a dislocated lens with choroid sclerosis. The mother had aortic root dilatation as seen on 2-D echo. The baby was 50.5 cm long, upper to lower segment ratio was 1.5:1 (normal at this age is 1.7:1). The head circumference was 34.5 cm; MFL was 3.9 cm and THL was 8.4 cm; both more than 97th per centile. Foot length (including toes) was 9.5 cm. The baby had a large, pointed nose, mild retrognathia and hyperextensible, slender long fingers. The eyes were normal. Systemic examination did not reveal any other abnormality and 2-1) echo was normal.






  ::   DiscussionTop


The diagnosis of Marfan's Syndrome is based on four criteria of characteristic familial, ocular, cardiovascular and skeletal features[7]. At least two of these four criteria are mandatory for the diagnosis in older children and adults[7]. Skeletal manifestation may be the only feature seen in the neonatal period[3],[8].

Heldrich and Wright[3] described two sisters with Marfan's Syndrome and with congenital hip dysplasias. They suggested that along with dolichostenomella (i.e. increased limb length as compared to the trunk), arachnodactyly, pectus excavatum or pectus carinatum, joint laxities, high arched palate, hip dysplasias should be a pointer towards probable presence of Marfan's Syndrome. The metacarpal index though worked out in adults, is not reliable in the newborn period. The socalled thumb sign and wrist sign are subjected to variation and are helpful only if positive[7].

Sisket al[9] found aortic root dilatation and mitral valve prolapse in all the 13 cases (reported by them) of Marfan's syndrome presenting at an age of less than 4 years. Initially, two of them had normal 2-D echos. Other cardiovascular manifestations present in infancy[6] may be coarctation of aorta, atrial septal defect, patent ductus arteriosus, pulmonary artery stenosis, persistent left superior venacava etc. Kawaguchi et al[8] carried out successful aortoplasty with aortic valve replacement in an infant of Marfan's syndrome with annuloaortic ectasia with aortic regurgitation.

The ocular findings in the form of subluxation of lens, myopia, retinal detachment, flat corneas leading to visual impairment, are not present in the neonatal age group[1].

The woman affected by Marfan's syndrome is confronted with dual problems when she becomes pregnant. The first is the 50% risk of the offspring inheriting the disease and secondly, there is apparently increased risk of vascular rupture during pregnancy.

No means are yet available for the prenatal diagnosis of the Marfan's syndrome[7]. The pre-natal period with Marfan's syndrome is usually unremarkable and the diagnosis except in those with strong family history is rarely made? It has been suggested that an upper to lower segment ratio lower than normal, arm span more than length, hand to supine length ratio of over 11%, foot to supine length ratio of over 15%, along with arachnodactyly and loose jointedness make for a confident diagnosis of Marfan's syndrome in a neonate[2].


  ::   AcknowledgmentTop


The authors wish to thank The Dean, Seth GS Medical College and King Edward Memorial Hospital for giving them permission to publish this article.

References

1 Cross HE, Jensen AD. Ocular manifestations in the Marfan syndrome and homocystinuria. Amer J Ophthalmol 1973; 75:405-420.
2Fraser FC. In: “Schaffer's Diseases of the Newborn.” Schaffer AJ, Avery ME, Taeusch NW, editors. Philadelphia: WB Saunders Co; 1984, pp 827-828.
3Heldrich FJ, Wright CE. Marfan's syndrome. Diagnosis in the neonate. Amer J Dis Child 1967; 114:419-423.
4Kawaguchi A, Bergsland J, Roland JM, Pieroni DR, Subramanian S. Aortoplastry and aortic valve replacement for annuloaorticectasia in an infant with Marfan's syndrome, forme fruste. J Thorac Cardiovase Surg 1984; 87:631-639.
5McKusick VA. The Marfan syndrome. In: "Heritable Disorders of Connective Tissue". Saint Louis: The CV Mosby Co; 1972, pp 61-23.
6Papaioannou AC, Agustsson MH, Gasul BM. Early manifestations of the cardio-vascular disorders in the Marfan Syndrome. Pediatrics 1961; 27:255-268.
7Pyeritz RE, McKusick VA. The Marfan's Syndrome: diagnosis and management. New Engl J Med 1989; 300:772-777.
8Rammurthy DV, Iyer PU, Kumar A, Mohan M, Khandpur SC. Marfan's syndrome in a neonate. Ind Paediatr 1986; 23:957-959.
9 Sisk HE, Zablea KG, Pyeritz RE. with the technical assistance of Hensley C. The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age. Amer J Cardiol 1983; 52:353-358.

 
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