while in other populations a birth prevalence of 1 in 200,000 has been estimated [Mansour et al., 1995]. Most cases are due to mutations in the SOX9 gene -a member of the SOX (SRY-related HMG box) gene family -located on 17q23-qter, which plays a role in chondrogenesis and sex determination [Foster et al., 1994;Wagner et al., 1994]. In few patients, chromosomal rearrangements involving the cis-regulatory elements upstream of the gene and deletions upstream of SOX9 have also been reported [Wirth et al., 1996;Pop et al., 2005;Leipoldt et al., 2007;Lecointre et al., 2009].This skeletal dysplasia is characterized by bowing of the femur and tibia, short 1st metacarpals, hypoplastic scapulae, non-mineralization of the pedicles of the thoracic vertebra, presence of 11 pairs of ribs, narrow iliac wings, and poor ossification of the pubis. The main facial features are a large head, flat nasal bridge, low-set and malformed ears, small jaw, and a cleft palate. A narrow chest, congenital dislocation of the hip, and bilateral talipes equinovarus are often common. A male-to-female autosomal sex reversal characterizes this syndrome in two-thirds of the affected karyotypic males.Expression can be very variable. For instance, campomelia is present in 90% of the cases. Cardiac defects and hydronephrosis have been reported in one-third of the patients. Moreover, in nearly 95% of the cases, death occurs in the neonatal period due to breathing problems related to small chest size [Mansour et al., 1995]. Key WordsBone dysplasia ؒ Dysmorphology ؒ Malformations ؒ Mental retardation ؒ SOX9 AbstractWe report on a 10.5-year-old girl with a mild form of campomelic dysplasia. She presented with short stature of prenatal onset, dysmorphic facial features, limitation of supination and pronation of the forearms, dysplastic nails, and bone abnormalities consisting especially of cone-shaped epiphyses of the middle phalanx of the 2nd fingers, brachydactyly and clinodactyly of the middle phalanx of both 5th fingers, short 4th metacarpals, radial and femoral head subluxation, hypoplastic scapulae, humeral and ulnar epiphyseal abnormalities, unossified symphysis pubis, and a significant delay in bone age. Molecular analysis of the SOX9 gene revealed the presence of a de novo missense mutation: p.P170L (c.509C 1 T). Mild and surviving cases of campomelic dysplasia are reviewed.