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Published on: August 8, 2022

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome

S P Robertson1, E Kirk, F Bernier

  • 1Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Victoria, Australia.

American Journal of Medical Genetics
|July 9, 1999
PubMed

Insights

Cantú syndrome, a rare disorder, is detailed in two new patients. Autosomal recessive inheritance is unlikely; new dominant mutations or microdeletions are more probable causes for this condition.

Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • Cantú syndrome is a rare genetic disorder characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly.
  • Previously documented in 13 patients, this report expands the known cases.

Observation:

  • Two new patients with Cantú syndrome are presented.
  • One patient exhibited steroid-responsive pulmonary hypertension and unique deep plantar creases.
  • These clinical features were not previously associated with Cantú syndrome.

Findings:

  • Segregation analysis of all reported families suggests autosomal recessive inheritance is unlikely.
  • The findings support the hypothesis of a new dominant mutation or a microdeletion syndrome.
  • Sib recurrence may be explained by gonadal mosaicism.

Implications:

  • This study refines the understanding of Cantú syndrome's genetic basis.
  • It highlights potential new therapeutic targets and diagnostic considerations.
  • Further research into dominant mutations and microdeletions is warranted for Cantú syndrome.

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