Mìžnarodnij Endokrinologìčnij Žurnal (Nov 2017)
The Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome): a case report and brief literature review
Abstract
The authors describe a 2.5-year-old girl with Wiedemann-Rautenstrauch syndrome (WRS). This disorder is extremely rare congenital pathology with unknown cause, and represents a set of symptoms. WRS patients are characterized by premature aging at birth, intrauterine and postnatal growth failure, pseudohydrocephalus, absence of subcutaneous fat except for buttocks and flanks, hypotrichosis of the scalp hair, eyebrows, and eyelashes, prominent scalp veins, craniofacial disproportion, etc. Treatment is symptomatic only. WRS has progressive course and early lethality. The first Ukrainian case of WRS is described and the literature is reviewed.
Keywords