|Year : 1976 | Volume
| Issue : 4 | Page : 29-30
Cryptophthalmos with syndactyly
Institute of Postgraduate Medical Education and Research, Calcutta, India
S C Sen
Institute of Postgraduate Medical Education and Research, Calcutta
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Sen S C. Cryptophthalmos with syndactyly. Indian J Ophthalmol 1976;24:29-30
Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek. It is a rare congenital anomaly and was first described by Zchender and Manz. It can occur as an isolated anomaly, but usually it is associated with multiple malformations like cleft palate, syndactyly, malformations of ear and nose and urogenital anomalies. To our knowledge, six cases,,,,, have been reported from India. Because of its rarity, a case of cryptophthalmos with syndactyly is being reported here.
| Case Report|| |
A female child aged about eight months was admitted to the eye ward B.S. Medical College Hospital, Bankura with the complaint of closure of eyelids on both sides since birth. She was a normally delivered full-term child. Patents were not consanguinous. Their other three children were healthy. There was no history of such abnormality in the family. Mother gave history of two still births. She also gave history of being treated with strepto-penicillin injections for cervical lymphadenitis during early months of pregnancy. Her V.D.R.L. test was negative.
On examination the baby was of average built. The skin of forehead was continuous without interruption with the skin of cheek on both sides completely covering the eye balls. On the left side there was a horizontal shallow linear depression in the region of palpebral fissure. Downy hairs were present above the region of the eyebrows and they were continuous with the hairs of temples. Eyeballs could be palpated, but they appeared smaller. There was no response of the baby when strong light was focussed on eyeballs. The bridge of the nose was broad and depressed. The index, middle and ring fingers of right hand and all the four fingers of left hand were joined together. Ears, lips, palate and external genitalia were healthy. No other abnormality could be detected on systemic examination.
As there was a groove of palpebral fissure on the left side, separation of eyelids from the eyeball was tried under general anaesthesia, with an idea for improvement of the appearance to some extent. During operation, tarsus or conjunctiva could not be identified. Cornea was completely opaque and covered with thick vascularised connective tissue. Limbus was also unidentifiable. As the conjunctiva was absent and cornea was maldeveloped, the idea of separating the lids from the blind eyeball was abandoned.
| Discussion|| |
Francois considered the syndrome to have four characteristics : (i) Cryptophthalmia, (ii) Dyscephaly - meningoencephalocele harelip, cleft palate and anomalies of ear and nose, (iii) Syndactyly and (iv) Genital anomalies. Sugar collected 17 cases of cryptophthalmos with syndactyly reported mostly from western countries and added his own case. He first used the term 'Cryptophthalmos Syndactyly Syndrome'. Cryptophthalmos is often bilateral (20 out of 32 cases collected by Avizonis). Most cases are sporadic but autosomal syndromes have been described which by reason of consanguinity of parents or several affected siblings, must be regarded as autosomal recessives. Consanguinity is present in 15% of cases. Apart from hereditary cause, other theories like inhibition of development due to some abnormal ectodermal differentiation and inflammatory theory 'ankyloblepheron by ankylosis have been suggested. In this present case, mother was treated for cervical lymphadenitis in early months of pregnacy with streptopenicillin injections, so the adverse effects of antibiotics on the developing foetus cannot be ruled out,.
As the cornea and anterior segment is grossly maldeveloped, any attempt for improvement of the condition surgically is useless.
| Summary|| |
A case of bilaleral cryptophthalrr.os with syndactyly is presented and the literature has been compendiously reviewed.
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