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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.
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.
Abstract:
Cantú syndrome (hypertrichosis, osteochondrodysplasia, cardiomegaly) is a rare condition, previously reported in 13 patients. We report on two additional patients with this disorder. One of the patients had pulmonary hypertension of unknown cause which was responsive to steroid therapy. She also had unusual, deep plantar creases, not reported previously in Cantú syndrome. Autosomal recessive inheritance has been suggested previously on the basis of sib recurrence in one family and consanguinity in another. We have performed a segregation analysis based on all reported families to date; the data indicate autosomal recessive inheritance is unlikely. A new dominant mutation or microdeletion syndrome are more likely possibilities, sib recurrence possibly representing gonadal mosaicism.