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ARTICLE
Year : 1967  |  Volume : 15  |  Issue : 5  |  Page : 193-196

Marchesani's syndrome


M. G. M. Medical College & M. Y. Hospital, Indore, India

Date of Web Publication21-Jan-2008

Correspondence Address:
R P Dhanda
M. G. M. Medical College & M. Y. Hospital, Indore
India
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Source of Support: None, Conflict of Interest: None


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How to cite this article:
Dhanda R P. Marchesani's syndrome. Indian J Ophthalmol 1967;15:193-6

How to cite this URL:
Dhanda R P. Marchesani's syndrome. Indian J Ophthalmol [serial online] 1967 [cited 2020 Jun 4];15:193-6. Available from: http://www.ijo.in/text.asp?1967/15/5/193/38806

Table 1

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Table 1

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The condition was first described by MARCHESANI in 1939. It is rarer as compared to its analogue, Marfan's Syndrome (Dystrophia Mesodermalis Hypoplastica). In both the conditions there is disgenesis of mesoderm. In one there is hypoplasticity leading to long limbs and increase in height (Marfan's Syndrome) while in the other there is hyperplasticity leading to stumpy stature and short limbs (Marchesani's Syndrome). Etiologi­cally, it is not definitely known whe­ther the condition is principally meso­dermal anomaly or there is ectodermal element also. Probably both play an important role in its heredity.

Marchesani's Syndrome is charac­terised by stumpy stature, short limbs, spade like hands and feet, brachyce­phalic head, enlarged thorax, well developed musculature and reduced mobility of joints. Radioscopy shows delayed carpal ossifications. The dis­ease is associated with sphere- and micro-phakia, resultant lenticular myo­pia, ectopia lentis and secondary glau­coma. Rarely chorio-retinal degenera­tive changes may be present.

Sphero-phakia has been explained on two possible factors. It may be a developmental anomaly or a degenera­tion of zonule, the lens retaining its early form and never being subjected to the action of ciliary body (Duke Elder 1938). The other factor may be hyperplasia of the ciliary body result­ing in lack of tension in the zonular fibres thus allowing the lens to assume its spherical form of maximal accom­modation (JONES 1961). The same explains ectopia lentis if present.

Secondary glaucoma is either due to anterior dislocation of lens and is then an inverse glaucoma also called as pupilary block glaucoma where rise in tension is aggravated by miotics (PROBERT 1953). Or it may be due to narrowing of the angle of anterior chamber due to hyperplasia of ciliary body and sphero-phakia.

Two cases of Marchesani's Synd­rome are reported below which in addition to the usual features, have an interesting feature of corneolenticular adhesion in their right eyes. Both cases are of developmental origin.

CASE REPORTS:- (2 sisters in the same family).

Case-1: K. B. 38 years old, mar­ried at the age of 14 years, sixth child in a family of 5 brothers and 4 sisters and youngest among sisters. All the family members are normal except the second among sisters who has identi­cal clinical features. Menstrual cycle first started at the age of 13 years and is regular at interval of 28-30 days. She had 2 abortions and one still birth but no full term delivery.

First examined, May 1962.

Right Eye:- Normal clear cornea.

Intercalary ectasia upper half of limbus.

Lens cataractous and dumb-bell shaped dislocated forward and adherent to posterior surface of cornea.

Visual acuity hand movement with good projection.

Tension 45 mm. Hg.

Left Eye:- Keratoglobus like cornea with thinning at the in­tercalary region in upper half.

Anterior chamber shal­low in outer 1/3.

Pupil eccentric up and in (lens seemed to be push­ing forward from tempo­ral side).

Visual acuity with cor­rection (-11.0 DSp.). 6/36.

Tension 20 mm. Hg.

Examined again, October 1965.

Right Eye:- Features as described above and unchanged.

Left Eye:- Nearly complete anterior dislocation of transpar­ent lens with acute sec­ondary glaucoma. Tension 41 mm. Hg.

She was treated with miotics and acetazolamide (Diamox) by mouth 250 mg. 4 hourly. The tension did not come down. The dislocated lens was extracted intracapsular by lower limbal route because of thinning in intercal­ary region in upper half. Tension dur­ing surgery was controlled by intra­venous Mannitol. A deep glaucomat­ous cupping, due to gradual rise of intra-ocular tension during the early stages of anterior sub-luxation of lens, is persisting.

Case-2:­

T.B. aged 40 years married at the age of 13 years; 4th child in the family and second among sisters. Men­strual cycle first started at the age of 13 years and is regular at interval of 26-30 days. She had two abortions but no full term delivery.

Examined, October 1965:

Right Eye:- Enlarged, clear cornea. Intercalary ectasia upper half of limbus.

Dumb-bell shaped cataractous lens dislocated forward and adherent to posterior surface of cornea. (Plate 2)-[Figure - 2].

Visual acuity-No per­ception of light.

Tension 60 mm. Hg.

Left Eye : Enlarged globular cornea with central opacity.

Intercalary ectasia, upper one fourth of limbus.

Deep anterior chamber.

Dislocation of lens but only catarctous nucleus floating in anterior cham­ber.

Visual acuity-No per­ception of light.

Tension 55 mm. Hg.


  Summary of Comparative Clinical Features of the Cases Top


Identical skeletal features of both cases: Short plumpy with thick and broad faces. Extremities are short and thick. Fingers and digits are small thick and broad. Hands and feet are spade like (Plate 1)-[Figure - 1].

Near identical skeletal measurements:[Table - 1]

Identical clinical features of Right eyes:

Clear corneas

Moderate intercalary ectasia along upper half of limbii. Deep anterior chambers.

Lenses are cataractous, ante­rior poles protruding through the pupils and adherent to posterior surface of corneas. No perception of light.

Kamla Bai

Cornea: Enlarged, globular and clear normal in size

Sclera: Thinning of intercalary region in upper half.

Anterior Chamber: Shallow on temporal side.

Lens: Transparent, whole lens disclocated into the an­terior chamber.

Visual acuity: Counts fingers from 3 feet.


  Discussion Top


The glaucomatous process in these cases must have started from early childhood and this explains the en­larged globular cornea and ectasia of sclera. The etiology of the glaucoma should be narrowing of the angle of anterior chamber due to pushing for­ward of lens or its anterior disloca­tion. An additional factor may be hyperplasia of the ciliary body.

Corneo-lenticular adhesion seen in right eyes of both patients may be con­genital non-separation of corea and lens or may be due to prolonged con­tact of anteriorly dislocated lens with posterior surface of cornea leading to irritation, inflammation and adhesion formation.

Tara Bai

Enlarged, globular but with central opacity.

Thinning of intercalary region in upper one fourth.

Deep.

Cataractous nucleus floating in ante­rior chamber.

No perception of light.


  Summary Top


Two cases of Marchesani's Synd­rome are presented. The cases are two sisters in a family of 5 brothers and 4 sisters. These cases have mostly iden­tical physical and ocular features and a few dissimilar features as well. In­teresting feature of corneo-lenticular adhesion in right eyes is not mention­ed in literature.[3]

 
  References Top

1.
DUKE ELDER W. S. (1964), Systems of Ophthalmology, Vol. III, part 2, pp. 1107-9.  Back to cited text no. 1
    
2.
JONES R. F. (1961), Brit. J. Ophth. 45, 377.  Back to cited text no. 2
    
3.
PROBERT (1953). Am. J. Ophth. 36, 1571.  Back to cited text no. 3
    


    Figures

  [Figure - 1], [Figure - 2]
 
 
    Tables

  [Table - 1]



 

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