Ventriculo-radial dysplasia

Dhatt, P. S.; Singh, Harjit; Lal, Jawahir; Gupta, Hemlata

doi:10.1007/bf02817906

Cited by 2 publications

(1 citation statement)

References 7 publications

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“…Central nervous system (CNS) anomalies appear uncommon in VACTERL cases of unknown cause. However, reports [Dhatt et al, 1973;Bruyere et al, 1980;Russell et al, 1981;Tollner et al, 1981;Carlo et al, 1982;Sujansky and Leonard, 1983;Aleksic et al, 1984;Beemer and von Ertbruggen, 1984;Briard et al, 1984;Cochrane et al, 1985;Milstein et al, 1985;Hunter and MacMurray, 1987;Vintzileos et al, 19871 suggest that there may be at least one syndrome, and probably more, with the combination of hydrocephalus and VACTERL defects. Differentiation of these syndromes from classic VACTERL association would be worthwhile because most children with VACTERL and hydrocephalus have died in the newborn period with the rare survivors usually being mentally retarded, and there have been several recurrences in families.…”

Section: Introductionmentioning

confidence: 99%

VACTERL with hydrocephalus: Further delineation of the syndrome(s)

et al. 1989

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Central nervous system defects including hydrocephalus are rare in cases of VACTERL association. However, recent reports suggest that there may be one or more disorders in which this combination of anomalies occurs. We report 8 additional patients including a recurrence in a previously described family, review the literature, and provide some population-based data of VACTERL-type anomalies in hydrocephalus cases. VACTERL with hydrocephalus appears distinct from hydrolethalus and similar conditions but is itself heterogeneous. The pattern of inheritance of the disorders involved is unclear, but autosomal recessive and sex-linked forms likely occur. The prognosis of VACTERL cases with hydrocephalus appears much poorer than for those with classic VACTERL anomalies, and the recurrence risk may be higher than for either the VACTERL association or isolated hydrocephalus.

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