Cantu syndrome

Synonym(s)

Hypertrichotic osteochondrodysplasia Definition

Hereditary syndrome consisting of congenital hypertrichosis; osteochondrodysplasia leading to multiple skeletal defects and car-diomegaly

Pathogenesis

Unknown

Clinical manifestation

Congenital hypertrichosis; macrosomia at birth; narrow thorax; cardiomegaly; wide ribs; hypoplastic ischiopubic branches; small obturator foramen; bilateral coxa valga; enlarged medullary canal; Erlen-meyer-flask-like long bones; generalized osteopenia

Differential diagnosis

Costello syndrome

Therapy

None

References

Lazalde B, Sanchez-Urbina R, Nuno-Arana I, Bitar WE, de Lourdes Ramirez-Duenas M (2000) Autosomal dominant inheritance in Cantu syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). American Journal of Medical Genetics 94(5):421-427

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