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Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a “Sotos-like” syndrome?
  1. J Amiel1,
  2. L Faivre1,
  3. L Wilson2,
  4. M Le Merrer1,
  5. A Munnich1,
  6. R Winter2,
  7. S Lyonnet1,
  8. V Cormier-Daire1
  1. 1Département de Génétique, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75743 Paris, France
  2. 2Mothercare Department of Paediatric Genetics, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
  1. Correspondence to:
 Dr Cormier-Daire, Département de Génétique, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75743 Paris, France;
 cormier{at}necker.frCorrespondence to:
 Dr M Stumm, Institut für Humangenetik, Universitätsklinikum, Leipziger Strasse 44, 39120 Magdeburg, Germany;

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Sotos syndrome (MIM 117550) is an overgrowth syndrome first described by Sotos et al1 in 1964 with over 200 cases reported to date. The syndrome is characterised by pre- and postnatal overgrowth, macrocephaly, advanced bone age, and distinctive facial features.2 In a review of 79 patients diagnosed as Sotos syndrome, Cole and Hughes3 showed that the overall gestalt was as efficient as clinical and radiological criteria for the diagnosis. The vast majority of cases are sporadic. Concordant and discordant monozygotic twins have been reported.4,5 In rare instances, familial cases with autosomal dominant or autosomal recessive inheritance have been suspected and chromosomal rearrangements have also been reported.4,6 However, the aetiology of Sotos syndrome remains unknown. A hypothalamic origin was first suspected but extensive endocrinological testing failed to show significant anomalies. More recently, chromosomal uniparental disomy has been ruled out.7 Here, we report on five unrelated cases with a Sotos facial gestalt, severe developmental delay, moderate to absent overgrowth, and normal bone age. We propose a separate Sotos-like syndrome.


Case 1

Case 1, a male, was the third child of healthy, non-consanguineous parents, aged 31 and 33 years at the time of birth. The mother's height was 1.57 m (25th centile) and the father's 1.72 m (between the 25th and 50th centile). Amniocentesis was performed for at risk maternal serum screening and fetal chromosomes were normal 46,XY. Bilateral vesicoureteral reflux was diagnosed prenatally and surgically repaired at 9 months of age. He was born at term with normal birth parameters (birth weight 3360 g, 25th centile; length 51 cm, 50th centile; OFC 35 cm, 50th centile). He had hypotonia and psychomotor delay (sat at 12 months, walked at 24 months, no words at 24 months). He was first investigated at 9 months; hypsarrythmia was diagnosed and …

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