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Catel-Manzke syndrome is a rare association combining micrognathia, glossoptosis and cleft palate (Pierre Robin sequence) with an anomaly of both index fingers (accessory ossicle at the metacarpophalangeal joint with resulting ulnar deviation). It has been described in about 25 patients. Besides the main features, several associated malformations have also been described, mainly a cardiac defect and growth retardation. Less frequent findings included iris coloboma, hypertelorism, small palpebral fissures, low-set or posteriorly rotated ears, bilateral brachydactyly, bilateral fifth finger clinodactyly, pectus excavatum, dislocable knees, short halluces, and scoliosis. Cerebral ventriculomegaly was described in one case. Ten of the case reports centred largely on the development of affected children, two of whom had intellectual deficit: in one of these cases the deficit was mild, whereas in the other it was severe. Intellectual development was within normal limits for the other children studied. As the first described cases all involved boys, an X-linked recessive mode of inheritance was suggested for this syndrome. However, female cases (including a report of two sisters) were later described and only one case of male-to-male transmission has been reported. The proposed genetic etiology is a microdeletion, possibly resulting in a contiguous gene syndrome, but this can only be confirmed by continuing cytogenetic evaluation of additional cases with advanced techniques. |