Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity?
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.
Nowaczyk
M J
MJ
Division of Clinical Genetics, Hospital for Sick Children, Toronto, Ontario, Canada. nowaczyk@exchange1.cmh.on.ca
Hughes
H E
HE
Costa
T
T
Clarke
J T
JT
D000015:Abnormalities, Multiple / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000175:diagnosis; D003238:Connective Tissue / Q000002:abnormalities*; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis; D005145:Face / Q000002:abnormalities*; D005260:Female; D005317:Fetal Growth Retardation / Q000150:complications*; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D012174:Retinitis Pigmentosa / Q000150:complications*; D013577:Syndrome