Summary
Severe ocular anomalies associated with other malformations were reported in a sibship from a consanguineous couple (second cousins). The first child had left anophthalmia with blepharophimosis and a partial coloboma of the right eye. The second had bilateral buphthalmos, megalocornea, right aniridia, bilaterally detached retina, fibrous proliferation, and a very high level of myopia. The child had several other anomalies : muscle hypoplasia, growth retardation, dolicocephaly, skull asymmetry with right occipital and left supra-orbital depression, dysplastic ears, prognathism with hypoplastic maxilla, high arched palate and long philtrum. The thorax was bell-shaped and echocardiography showed prolapse of the atrio-ventricular valves, with mitral and trisuspid insufficiency. He also had an umbilical hernia, a right inguinal hernia, bilateral cryptorchidism, severe scoliosis, and bilateral camptodactyly with ulnar deviation of all digits. The third child was a stillborn girl with left anophthalmia, bilateral camptodactyly, clubfoot, and heart defect. The mother of the sibs had fifth finger clinodactyly, but no other anomaly was found in the pedigree. The caryotypes of parents and children were normal. There are numerous reports of malformations associated with anophthalmia. This family probably represents an example of an autosomal recessive condition with variable expressivity. *Author : Orphanet (February 2004).*
