Article
Expanding the mutation and clinical spectrum of Roberts syndrome.
Congenital anomalies - 1 Jul 2016
Afifi Hanan H, Abdel-Salam Ghada M H, Eid Maha M, Tosson Angie M S, Shousha Wafaa Gh, Abdel Azeem Amira A, Farag Mona K, Mehrez Mennat I, Gaber Khaled R
Abstract excerpt
Roberts syndrome and SC phocomelia syndrome are rare autosomal recessive genetic disorders representing the extremes of the spectrum of severity of the same condition, caused by mutations in ESCO2 gene. We report three new patients with Roberts syndrome from three unrelated consanguineous Egyptian families. All patients presented with growth retardation, mesomelic shortening of the limbs more in the upper than in...
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