In 1911 Demetrius Chilaiditi described the radiographic findings of hepatodiaphragmatic interposition of the colon in 3 cases, a syndrome which now bears his name [1]. The incidence of this anomaly in the general population ranges from 0.025% to 0.28% [2–4]. Typically this is an incidental radiographic finding, often asymptomatic; however, abdominal pain, distension, vomiting, anorexia, constip...

BACKGROUND Children with hemihypertrophy are screened for Wilms tumor, because this condition is a risk factor for developing the neoplasm. Patients with Klippel-Trenaunay syndrome (KTS) are often considered potential candidates for Wilms tumor, because they have unilateral overgrowth of the lower limb. In our experience, however, an association between KTS and Wilms tumor has not been observed...

The epidermal nevus syndrome (ENS) is an uncommon neurocutaneous disorder in which epidermal nevi are found in association with congenital abnormalities of the brain, eye, and/or skeleton. The association of epidermal nevi and neurologic abnormalities was comprehensively described by Schimmelpenning in 1957. Pavone et al. (1991) identified a homogeneous variant of ENS with hemimegalencephaly, g...

Proteus syndrome is a rare congenital condition with various clinical features such as hemihypertrophy, macrodactyly, subcutaneous masses, brain-like hyperplasia of the soles and/or palms, epidermal naevi and scoliosis with other mesodermal malformations. Multifocal overgrowth can affect various tissues causing severe functional and cosmetic disability, but intellectual and language development...

S ir Frederick Treves (1853-1923) is best known as the doctor and protector of the Elephant Man, Joseph Merrick (1862-1890) (Figure 1). Broadway plays, a movie, and several books have described Treves’ relationship with this horribly deformed man who is now considered to have had Proteus syndrome rather than the earlier hypothetical diagnosis of neurofibromatosis. Proteus syndrome is a rare dis...

Studies on the loss of heterozygosity (LOH) in human malignancies have shown that a number of different chromosomal regions associated with putative tumor suppressor genes may be involved in any one given tumor. We have carried out a similar study on Wilms' tumor using a range of DNA markers for a number of tumor suppressor regions. We tested a total of 44 Wilms' tumors including material from ...

A 15-year-old girl presented to the pediatrician with complaints of excessive fat distribution on the right side and breast asymmetry. At age 2, she had undergone a left-sided nephrectomy because of a stage III Wilms tumor using a transverse cut supraumbilical approach, followed by systemic chemotherapy and local radiotherapy. In the case of trunk asymmetry, it is questionable which side is dev...

Median ages at diagnosis were 36.5 and 42.5 mo for 1523 males and 1678 females with unilateral Wilms' tumor registered between October 1969 and December 1985; they were 23.5 mo and 30.5 mo for 100 males and 141 females with bilateral disease. The median age for multicentric, unilateral cases was intermediate between the bilateral and unicentric medians. Patients with hemihypertrophy in addition...

Bilateral nephroblastomatosis (NB) is an uncommon renal anomaly characterized by multiple confluent nephrogenic rests scattered through both kidneys, with only a limited number of cases reported in the medical literature. Some of these children may have associated either Perlman or Beckwith-Wiedemann syndrome and others do not demonstrate syndromic features. We report a full-term boy with antev...