Distal trisomy 2p and arachnodactyly

Fluorescence in situ hybridisation studies were not performed as the same translocation in balanced form was identified in their mother and maternal grandmother. 5 However, the marfanoid habitus with mental retardation has also been described in an X linked disorder. 6 Marfanoid skeletal and cardiovascular phenotypes have also been reported which are not linked to known fibrillin genes. 7 The children presented here do not fulfil the criteria required for a diagnosis of Marfan syndrome. 5 Feature Female Male Others Arachnodactyly + + + Foot abnormalities + + + Congenital dislocation of the hip + - + Vertebral abnormalities - - + Scoliosis - - + Pectus excavatum - + + Developmental delay Mild Moderate Severe IUGR - - + Postnatal growth delay - - + Triangular face + + + Bulbous nose + + + High arched palate + + + Bossed forehead - +/- + Micrognathia - - + Hypertelorism - - + Strabismus - - + Myopia - + + Genital abnormalities - - + Cardiac abnormalities - - + Fits - - + A combination of retardation (particularly speech and language) with arachnodactyly can also occur in 22q11 microdeletion syndrome, but these children have none of the associated features. 8 The presence of arachnodactyly coupled with the evident arachnodactyly in the short duplication reported by Wakita et al 4 leads us to conclude that this a key feature of duplications in this region.