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A probable case of familial Weaver syndrome associated with neoplasia
  1. CHRIS DERRY,
  2. I KAREN TEMPLE
  1. Wessex Clinical Genetics Service, Southampton University Hospitals NHS Trust, The Princess Anne Hospital, Coxford Road, Southampton SO16 5YA
  2. Portsmouth Healthcare NHS Trust, Child Development Centre, 151 Locksway Road, Portsmouth, Hants PO4 8LD
    1. K VENKAT-RAMAN
    1. Wessex Clinical Genetics Service, Southampton University Hospitals NHS Trust, The Princess Anne Hospital, Coxford Road, Southampton SO16 5YA
    2. Portsmouth Healthcare NHS Trust, Child Development Centre, 151 Locksway Road, Portsmouth, Hants PO4 8LD

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      Editor—Overgrowth is a well recognised feature in several dysmorphic syndromes. These conditions often have overlapping clinical pictures and on occasions it can be difficult to fit patients into known categories. In 1974, Weaveret al 1 described a syndrome of accelerated growth and advanced bone age associated with macrocephaly, developmental delay, and distinctive facies with a broad forehead, hypertelorism, large ears, micrognathia, and a long philtrum. Since the original report, over 30 cases have been published.

      An increased incidence of neoplasia has been associated with other overgrowth syndromes, particularly in Beckwith-Wiedemann syndrome, but has been reported in Weaver syndrome only on one previous occasion.2 This low incidence may reflect the relative rarity of the condition.

      We were recently referred a boy at the genetic clinic with probable Weaver syndrome. His mother had mild features of the condition and in addition developed an ovarian endodermal sinus tumour in her teenage years.

      The proband was delivered at term +9 by caesarian section for fetal distress following an otherwise uneventful pregnancy. He had aspirated meconium and at delivery had low Apgar scores of 3, 4, and 8 at one, five, and 10 minutes respectively. Intubation and ventilation was required for five minutes, but the baby recovered well, and after one night on SCBU was returned to the ward and experienced no further difficulties. Birth weight was 4460 g (91st centile), OFC was 39 cm (>99th centile), and length was 58 cm (99th centile). He was not noted to have any dysmorphic features at this time and was discharged.

      The next contact with paediatric services was at the age of 2 years when he was referred for assessment for tiptoe walking. He had poor speech at this time and also a tendency to have very severe tantrums. On examination he was …

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