[Anophthalmia and accompanying malformations (author's transl)].
Six children with bilateral or unilateral anophthalmia were described. Malformations of the face and the extremities, stunted growth, hydrocephalus, muscle hypotony and mental retardation in varying degrees and combinations were also found. The genesis is not clear. With two siblings who exibited a combination which has not been described previously of anophtalmia on one side and microphthalmia on the other together with a cutaneous hexadactyly, the fact that the combination occurs in both children and that the mother exibits a "incomplete form" (?) of the ophthalmologic symptom tends to indicate that the cause is genetic.
D000015:Abnormalities, Multiple; D000853:Anophthalmos / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000150:complications; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000150:complications; D007223:Infant; D008607:Intellectual Disability / Q000150:complications; D017880:Limb Deformities, Congenital; D008297:Male; D008850:Microphthalmos / Q000150:complications; D009129:Muscle Tonus
Anophthalmie und begleitende Fehlbildungen