Telomere Science Library

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A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome.

Authors: P P. Zorlu, A S AS. Eksioglu, M M. Ozkan, T T. Tos, S S. Senel
Published: 11/04/2014, Genetic counseling (Geneva, Switzerland)


Wolf-Hirschhorn syndrome is caused by a deletion of the distal portion of the short arm of chromosome 4, and is characterized by psychomotor retardation, seizures, congenital malformations, and typical facial appearance including 'Greek warrior helmet' appearance of the nose. The form and the severity of clinical manifestations vary according to the size and location of the deletion. Major complications are severe growth retardation, developmental delay, seizures, feeding difficulties due to hypotonia, and predisposition to respiratory infections. Patients will benefit from supportive therapy and special education. It is important in terms of prognosis to provide counseling to families in this respect. We present here a case with Wolf-Hirschhorn Syndrome in order to remind its rarity and the ability of the patients' progress in the areas of motor skills, speech, social interaction.