Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.
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.
Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Victoria, Australia.
S P
SP
Robertson
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E
Kirk
F
F
Bernier
J
J
Brereton
A
A
Turner
A
A
Bankier
D006332:Cardiomegaly / Q000151:congenital* / Q000473:pathology; D002675:Child, Preschool; D005145:Face / Q000473:pathology; D005260:Female; D006801:Humans; D006983:Hypertrichosis / Q000151:congenital* / Q000473:pathology; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000000981:diagnostic imaging; D013902:Radiography, Thoracic; D013577:Syndrome