Autistic regression in a child with Silver–Russell Syndrome and maternal UPD 7

Silver–Russell syndrome (SRS) is a heterogeneous syndrome which is characterized by severe intrauterine and postnatal growth retardation and typical dysmorphic features. In 5–10% of SRS patients, a maternal uniparental disomy of chromosome 7 (UPD7) can be detected.We describe a 4.5-y old boy. Physical examination at the age of 4.5 y was remarkable for small stature, relatively big head, triangular face, broad forehead, pointed chin and clinodactyly. He had hypopigmented macules on his back with no evidence of asymmetry/hemihypertrophy. Clinical diagnosis of Silver–Russell syndrome was made. Maternal UPD of chromosome 7 was found, confirming the diagnosis. Along with the clinical findings that are described in this syndrome he had moderate developmental delay which is not commonly found in these patients and underwent an autistic regression around the age of 2 years. This association has only once been described before in this syndrome. A possible explanation is that the autism is not a part of SRS but is due to the UPD. Our case suggests an association of autistic regression with a locus on chromosome 7.

► We describe a 4.5-y old boy with Silver–Russell syndrome and maternal UPD7.
► He had moderate developmental delay which is not common in the syndrome.
► He underwent an autistic regression which has only once been described before.
► A possible explanation is that the autism is not a part of SRS but is due to the UPD.
► Our case suggests an association of autistic regression with a locus on chromosome 7.