|Year : 1985 | Volume
| Issue : 2 | Page : 129-131
A multiple malformation syndrome with ankyloblepharon filiforme adnatum, with cleft lip and palate
Anjali J Modi, SD Adrianwalla
Department of Ophthalmology, K.E.M. Hospital and Seth G.S. Medical College, Mumbai, India
Anjali J Modi
Department of Ophthalmology. K.E.M. Hospital, Mumbai
|How to cite this article:|
Modi AJ, Adrianwalla S D. A multiple malformation syndrome with ankyloblepharon filiforme adnatum, with cleft lip and palate. Indian J Ophthalmol 1985;33:129-31
|How to cite this URL:|
Modi AJ, Adrianwalla S D. A multiple malformation syndrome with ankyloblepharon filiforme adnatum, with cleft lip and palate. Indian J Ophthalmol [serial online] 1985 [cited 2013 May 19];33:129-31. Available from: http://www.ijo.in/text.asp?1985/33/2/129/30838
Both cleft lip palate and popliteal pterygia in their own are individually associated with a host of other malformations. Ankyloblepharon filiforme adnatum is a congenital condition characterized by fusion of a portion of the lid margins, wherein the lid margins are connected by a tissue band, there being a failure of epithelium to cover the marginal mesoderm, permitting its fusion. This paper highlights such a case in which these features were noted.
| Case report|| |
A 12 day old, low birth weight male child was referred for multiple congenital anomalies noted at birth. He was born of a first degree consanguineous marriage. The parents and other family members were normal.
On examination the child had bilateral fine bands running between the lid margins interfering with the opening of the eyes [Figure - 1]A. He had a cleft lip with complete cleft palate [Figure - 1]B, bilateral popliteal pterygia extending from mid thigh to mid-calf, complete syndactyly of the 2nd and 3rd toes in both feet with nail hypoplasia [Figure - 1]D the 4th and 5th being absent, partially descended testis [Figure - 1]C and an accessory nipple. It was decided to repair the fused lids by cantholysis followed by mobilizing the conjunctiva and suturing it to the skin at the lid margins, but unfortunately the child died of gastroenteritis, a week after examination.
| Discussion|| |
Von Hasner in 1882 first reported a case of this rare condition in which the margins of the eyelids were connected by bands of extensile tissue interfering with the opening of the eyes, called ankyloblepharon filiforme adnatum. This is to be distinguished from simple ankyloblepharon wherein the lid margins are not connected by bands but are directly fused The bands may be present in one or both eyes and may be single or multiple, the width varying from 0.3 mm to 4 mm and length from 1 mm to 10 mm varying with the degree of forcible separation. The bands are usually evident on the lateral, middle or rarely the nasal portion of the lid but never at the extreme canthi and they are composed of central vascular connective tissue surrounded by pavement epithelium.
The pathogenesis of this disorder is disputed The fusion cannot be a simple persistence of the normal embryologic union of the lids in fetal life and defective separation. Von Hasner attributed the anomaly to a pathological inflammatory growth of the skin since similar growths were also present on the cheeks in his case, but microscopic studies have failed to reveal evidence of inflammation. Wintersteiner in 1908 postulated an epithelial defect at the borders of the eyelids during fetal life through which connective tissue grows, a defect considered as caused by trauma, as by the finger nail of the fetus in utero. This could however, hardly cause symmetrical multiple adhesions. A third theory is that the condition is a pure aberration of development, due either to a temporary arrest of epithelial growth or an abnormally proliferating mesoderm allowing union at certain points at the mesenchyme of the lid folds, without epithelial inter-position. The uniformity of familial occurrence and the presence of associated anomalies suggest such an origin. The associated anomalies reported in the present case are all mesodermal in origin all occurring during the 9th to 10th week of gestation with the exception of the cleft lip and palate. This suggests that the ankyloblepharon anomaly is probably mesodermal and may be related in some cases to fetal insults influencing development at this stage of gestation.
| Summary|| |
An unusual report of a multiple malformation syndrome with ankyloblepharon filiforme adnatum, with cleft lip and palate, bilateral popliteal pterygia, bilateral complete syndactyly of 2nd and 3rd toes and hypoplastic nails, accessory nipple and partially descended testis is reported.
| References|| |
|1.||Henkind P., Priest and Schiller, 1983, Compendtum of Opthalmology, p. 14. |
|2.||Von Hasner 1881, Ankyloblepharon Filiforme Adenatum Ztschr F. Heilk 2429, Cited by Judge H, Mou W. and Gabreils J. 1929, Arch. Ophthmol 2 :702, |
|3.||Wintersteiner, H, 1908, Arch. F. augenh 59 ; 196. |
|4.||Duke Elder, S. ; 1963, System of Ophthalmology, Vol. III. Normal and Abnormal Development, Part I, Congenital Deformities. St. Louis, C. V. Mosby Co., p. 827. |
[Figure - 1]