Abstract for presentation at 11th International Congress of Human Genetics

Cantu Syndrome: Two new unrelated cases

  • Dr Diana Garcia-Cruz, Instituto de Genetica Humana, CUCS, Universidad de Guadalajara, Mexico
  • Dr Alejandra Mampel, 2Instituto de Genética de la Facultad de Ciencias Médicas de la Universidad Nacional de Cuyo, Mendoza, Argentina
  • Dr María Echevarria, 2Instituto de Genética de la Facultad de Ciencias Médicas de la Universidad Nacional de Cuyo, Mendoza, Argentina
  • Dr Ana Vargas, 2Instituto de Genética de la Facultad de Ciencias Médicas de la Universidad Nacional de Cuyo, Mendoza, Argentina
  • Dr Gema Castañeda, División de Medicina Molecular, CIBO, CMNO, IMSS, Guadalajara, Jalisco, Mexico
  • Dr Maria Lopez Cardona, Instituto de Genetica Humana, CUCS, Universidad de Guadalajara, Mexico
  • Dr Nory Davalos, Instituto de Genetica Humana, CUCS, Universidad de Guadalajara, Mexico
  • Dr Jose Cantu, Instituto de Genetica Humana, CUCS, Universidad de Guadalajara, Mexico

    • We studied two unrelated female cases with the Cantu syndrome, which is characterized by generalized congenital hypertrichosis, macrosomia at birth, coarse facies, prominent forehead, long philtrum, epicanthal folds, long and curly eyelashes, anteverted nares, flat, broad nasal bridge, thick lips, short neck, narrow thorax, cardiomegaly, wide ribs, platyspondyly, hypoplastic ischiopubic branches, small obturator foramen, bilateral coxa valga, enlarged medullary canal (Erlenmeyer-flask-like long bones), generalized osteopenia and autosomal dominant mode of inheritance. The propositi aged 19 months and 22 years, presented clinical and radiological characteristics of the Cantu syndrome, both corresponded to sporadic cases from a non-consanguineous mating. The elder case now is pregnant, and we present her follow-up of 10 years.
    The purpose of this paper is to describe two new cases and to present further complications of this syndrome.

    Conference Organiser - ICMS Pty Ltd