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PO-0362 The Silver-russell Syndrome: Report Of 2 Cases
  1. S Hammami,
  2. H Besbès,
  3. M Charfi,
  4. CH Ben Meriem,
  5. S Hadded,
  6. MN Guédiche
  1. Pediatric, Fattouma Bourguiba Hospital, Monastir, Tunisia

Abstract

Background The Silver-Russell syndrome is rare pattern of malformations which associated growth retardation generally starting in antenatal period, a characteristic facial feature and limb asymmetry. We report two new cases illustrating this syndrome.

Observation 1 A female infant was admitted in paediatric department at the age of 4 months. The neonatal period was unremarkable; the infant had no intrauterine growth retardation (birth weight and height ranging between the 25th and 50th percentile). The infant’s head circumference was large contrast with small facial mass. Clinical findings included a small triangular face with frontal bossing, blue sclerae, thin lips with down-turned corners, retromicrognathia, and limb asymmetry. Weight and height at admission were less than 5th percentile (Weight was 3.9 kg and size 56 cm); her head circumference grew normally along the 75th percentile.

Observation 2 A male Infant was hospitalised at the age of 1 year and 4 months. Physical examination showed growth deficiency: Weight: 7.1 Kg (<5th percentile), size: 72 cm, head cirumference: 46 cm (25th percentile). The same facial features as the first case was found with body asymmetry, flat and narrow feet and cryptorchidism.

Conclusion The diagnosis of this syndrome is based on clinical findings. The treatment is purely symptomatic and growth hormone administration does not achieve the target size. The long-term prognosis, a part the growth, is good.

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