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Costello syndrome and rhabdomyosarcoma
  1. MURRAY FEINGOLD
  1. National Birth Defect Center, Waltham, Massachusetts 02451, USA

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    Editor—Kerr et al 1 reported two children with Costello syndrome who also had embryonal rhabdomyosarcomas. I report a 14 year boy with Costello syndrome and an alveolar rhabdomyosarcoma.

    The baby was born after 35 weeks gestation but weighed 3544 g. Polyhydramnios was present. At birth the infant appeared to be somewhat dysmorphic, was oedematous, and had low set ears. He required a respirator for five days. His oral intake was poor and at the age of 2 weeks he was admitted to hospital because of failure to thrive. At the age of 6 months, a diagnosis of alveolar rhabdomyosarcoma of the right foot was made. Treatment consisted of below the knee amputation and chemotherapy (doxorubicin, actinomycin D, vincristine, and cyclophosphamide). Continual follow up by oncologists has not indicated any recurrence of the rhabdomyosarcoma.

    Subsequently, he was seen by various geneticists because of the following findings: nystagmus, a low set ear, midface hypoplasia, slightly coarse facial features, bitemporal narrowing, anteverted nares, broad nasal bridge, prominent pouting lower lip, marked joint laxity and hyperextensibility, and developmental delay. At that time the diagnosis of cutis laxa was made. Collagen studies were normal.

    As he grew older, his face appeared coarser (fig 1). He remained below the 3rd centile for height but the 10th centile for weight. Other findings consisted of posteriorly positioned ears, large ear lobes, prominent lips, increased chest diameter, deep plantar palmar creases, loose skin on his hands and feet, hyperkeratotic lesions on his palms and soles, and papillomas around his nose. He has remained developmentally delayed and at present requires special classes.

    The findings present in this patient are typical of Costello syndrome. In contrast to the two patients reported by Kerr et al 1 who had an embryonal subtype of rhabdomyosarcoma, our patient had an alveolar subtype. Rhabdomyosarcomas and Costello syndrome are rare disorders and to find three patients with such a combination gives credence to the possibility that an association exists between the two entities. Recently, Suri and Garrett2 reported a patient with Costello syndrome who had an acoustic neuroma.

    Of interest, when I informed the mother of my patient who lived in Maine, and now lives in Oregon, about the two patients from England who also had Costello syndrome and rhabdomyosarcomas, she told me she had been aware of this information for more than a year as she communicated with these families through the Internet.

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