Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures.

SUMMARY Three infants are described, one with the Neu-Laxova syndrome and two with the cerebro-oculo-facio-skeletal (COFS) syndrome. The relationship between these two syndromes is discussed in the light of the present cases and others in published reports. Pena and Shokeirl described ten infants with a syndrome consisting of microcephaly, microphthalmia, cataracts, and joint contractures and in most cases characteristic facial appearance. They believed that autosomal recessive inheritance was involved in what they referred to as the cerebro-oculo-facio-skeletal syndrome (COFS) syndrome. A follow-up of some of the original cases and details of several new ones,2 together with other reports 3 4 which probably describe the same syndrome under different names, firmly established the existence of the COFS syndrome. However, details of other cases 5-8 have led Pena et a12 to suggest that other similar syndromes exist within the "same phenotypic syndrome com-munity". Infants described by Neu et a19 and Laxova et al 10 had microcephaly and joint contractures but were also characterised by oedema and bizarre facial features. Similar infants were described by Lazjuk et all' who drew attention to reports in the Czech literature,12 and following a review of all known cases they suggested that the constellation of signs be called the Neu-Laxova syndrome. However, the COFS syndrome, which may itself be heterogeneous, and the Neu-Laxova syndrome have sufficient features in common for some authors to consider them to be possibly part of the same entity.7 13 In the absence of a specific biochemical or other marker it is impossible to resolve this diagnostic hetero-geneity and in this report we describe three further cases, two of whom appear to conform most closely to the COFS group, and one of whom has features common to both the COFS and Neu-Laxova syndromes.