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Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of
M J Nowaczyk1, H E Hughes, T Costa
1Division of Clinical Genetics, Hospital for Sick Children, Toronto, Ontario, Canada. nowaczyk@exchange1.cmh.on.ca
Abstract:
We report a girl with severe prenatal and postnatal growth retardation, congenital generalized absence of subcutaneous tissue, and facial and somatic changes with some similarities to Wiedemann-Rautenstrauch syndrome (WRS). However, the patient's condition is sufficiently different from those reported previously to suggest that this patient represents a new syndrome. The abnormalities observed in this patient overlap with those of WRS, Cockayne syndrome, type A (CSA), and osteodysplastic primordial dwarfism type III (OPD III), but also include choanal atresia and pigmentary retinopathy.