J Med Genet 37:548-551 doi:10.1136/jmg.37.7.548
  • Letters to the editor

Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family

  1. G TIBERIO*,
  2. M C DIGILIO*,
  4. F TESTA,
  1. * Servizio di Genetica Medica, IRCCS “Bambino Gesù”, Piazza S Onofrio 4, 00165 Roma, Italy
  2. Servizio di Radiologia, IRCCS “Bambino Gesù”, 00165 Roma, Italy
  3. ‡Reparto di Ortopedia, IRCCS “Bambino Gesù”, 00165 Roma, Italy
  1. Dr Giannotti, giannott{at}

    Editor—In 1973, Liebenberg1described a five generation pedigree with unusual anomalies of the elbows, wrists, and hands and autosomal dominant inheritance (MIM 186550). The same family was re-examined in 1985 by Beighton with corroboration of the distinctive phenotype.2 3 The most prominent features were dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, and brachydactyly. Since then, no other families have been described.

    We report on a mother and two sons whose clinical and radiological features closely resemble those of Liebenberg syndrome.

    The pedigree of our patients is showed in fig 1. When last examined, the two affected children, III.4 and III.5, were 3 years and 1 year old, respectively. Their older sister, III.3, was aged 6 and was thought to be unaffected. The affected mother, II.2, was 33 and her husband, II.3, 36 years old and were healthy and non-consanguineous. The mother's parents, I.1 and I.2, were said to be unaffected.

    Figure 1

    Pedigree of the patients. II.2 is 33 years old, III.4 is 3 years old, and III.5 is 1 year old.

    Patient III.5 was born at term. Pregnancy and delivery were uneventful. Birth weight was 3800 g, length 50 cm, and head circumference 35 cm. His development milestones were normal. At 1 year he was able to sit alone and spoke his first words. There were no health problems. His joint anomalies were noticed at birth.

    We examined the patient at the ages of 6 months and 1 year. At 1 year weight was 12 kg (>90th centile), height 80.6 cm (>97th centile), and OFC 47 cm (>50th centile). In the “anatomical position”, the elbow joints were slightly flexed and active extension from that position was not …