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Two new cases of Cumming syndrome confirming autosomal recessive inheritance

M J Pérez del Río1, J Fernández-Toral, B Madrigal

  • 1Department of Pathology, Central Hospital, University of Oviedo, Asturias, Spain.

We report on two stillborn sisters with generalized hydrops, campomelia, cervical lymphocele, and polycystic dysplasia of kidney, liver, and pancreas. This syndrome conforms to that first described by Cumming et al. [Am. J. Med. Genet. 25:783-790, 1986]. This observation provides additional support for the notion that this syndrome has an autosomal recessive pattern of inheritance.

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