ORPHA: 1397;
Riccardi and Marcus (1978) reported a kindred in which 2 brothers and probably a maternal great-uncle had hydrocephalus, cerebellar agenesis, and absence of the foramina of Luschka and Magendie. The authors emphasized the nonspecificity of the Dandy-Walker anomaly, which the findings in this case represent. The same X-linked disorder may have been present in the 3 males in 1 family (2 brothers and maternal uncle) reported by Renier et al. (1983).
Stratton and Bluestone (1991) described a family in which a male infant had features of otopalatodigital syndrome type II (OPD2; 304120) as well as hydrocephalus and cerebellar hypoplasia; 2 maternal uncles died neonatally with congenital hydrocephalus and digital abnormalities consistent with OPD II. Stratton and Bluestone (1991) suggested that the 2 entities are determined by mutations at neighboring loci on the X chromosome.
Renier, W. O., Gabreels, F. J. M., Hustinx, T. W. J., Thijssen, H. O. M., ter Haar, B. G. A., Kroll, W. E., Becker, H. Cerebellar hypoplasia, communicating hydrocephalus and mental retardation in two brothers and a maternal uncle. Brain Dev. 5: 41-45, 1983. [PubMed: 6846731] [Full Text: https://doi.org/10.1016/s0387-7604(83)80008-4]
Riccardi, V. M., Marcus, E. S. Congenital hydrocephalus and cerebellar agenesis. Clin. Genet. 13: 443-447, 1978. [PubMed: 657584] [Full Text: https://doi.org/10.1111/j.1399-0004.1978.tb04143.x]
Stratton, R. F., Bluestone, D. L. Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus. Am. J. Med. Genet. 41: 169-172, 1991. [PubMed: 1785627] [Full Text: https://doi.org/10.1002/ajmg.1320410206]