Distal Trisomy 10p and 4q Monosomy: Associated with Marfanoid Features, Syndromic Aortic Root Dilatation and Intellectual Disability

A 35 year old man presented in childhood with global developmental delay, hypotonia and a Marfanoid phenotype with dolichocephaly, long narrow face with malar hypoplasia and retrognathia, high-arched palate and dental crowding, chest asymmetry, severe scoliosis and pes planus (Figure 1A). There were no ocular findings of Marfan syndrome (MS) and no known relevant family history. Investigations revealed normal plasma amino acids and urine organic acids, normal total plasma homocysteine and normal fragile X syndrome results.