Cantu syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Kalsang Dolma, M.B.B.S.[2]

Overview

Cantú syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia and cardiomegaly.^[1]^[2]

Historical Perspective

This condition was first described by Cantu at al in 1982.^[3]

Epidemiology and Demographics

Less than 50 cases have been described in the literature.

Natural History, Complications and Prognosis

Neuro-developmental outcome appears to be normal. However obsessive traits and anxiety have been reported.

Diagnosis

Symptoms

It may also be associated with recurrent infections with low immunoglobulin levels and gastric bleeding.

Physical Examination

Head

There is a characteristic facies.^[4]

Eyes

Heterochromia iridis^[5]

Extremities

Lymphoedema^[5]

Echocardiography

References

↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
↑ Engels H, Bosse K, Ehrbrecht A; et al. (2002). "Further case of Cantú syndDermatology. 2012 Feb 3. [Epub ahead of print] Copy Number Variations on Chromosome 4q26-27 Are Associated with Cantu Syndrome. Kurban M, Kim CA, Kiuru M, Fantauzzo K, Cabral R, Abbas O, Levy B, Christiano AM.rome: exclusion of cryptic subtelomeric chromosome aberrations". Am. J. Med. Genet. 111 (2): 205–9. doi:10.1002/ajmg.10560. Unknown parameter |month= ignored (help); Unknown parameter |- pmid= ignored (help); line feed character in |title= at position 80 (help)
↑ Cantú JM, Sánchez-Corona J, Hernándes A, Nazará Z, García-Cruz D (1982) Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies. Clin Genet 22(4):172-179
↑ Scurr I, Wilson L, Lees M, Robertson S, Kirk E, Turner A, Morton J, Kidd A, Shashi V, Stanley C, Berry M, Irvine AD, Goudie D, Turner C, Brewer C, Smithson S (2011) Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype. Am J Med Genet Part A 155: 508–518
↑ ^5.0 ^5.1 García-Cruz D, Mampel A, Echeverria MI, Vargas AL, Castañeda-Cisneros G, Davalos-Rodriguez N, Patiño-Garcia B, Garcia-Cruz MO, Castañeda V, Cardona EG, Marin-Solis B, Cantu JM, Nuñez-Reveles N, Moran-Moguel C, Thavanati PK, Ramirez-Garcia S, Sanchez-Corona J (2011) Cantu syndrome and lymphoedema. Clin Dysmorphol 20(1):32-37

[Bolognia-1] Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.

[2] Engels H, Bosse K, Ehrbrecht A; et al. (2002). "Further case of Cantú syndDermatology. 2012 Feb 3. [Epub ahead of print] Copy Number Variations on Chromosome 4q26-27 Are Associated with Cantu Syndrome. Kurban M, Kim CA, Kiuru M, Fantauzzo K, Cabral R, Abbas O, Levy B, Christiano AM.rome: exclusion of cryptic subtelomeric chromosome aberrations". Am. J. Med. Genet. 111 (2): 205–9. doi:10.1002/ajmg.10560. Unknown parameter |month= ignored (help); Unknown parameter |- pmid= ignored (help); line feed character in |title= at position 80 (help)

[3] Cantú JM, Sánchez-Corona J, Hernándes A, Nazará Z, García-Cruz D (1982) Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies. Clin Genet 22(4):172-179

[Scurr2011-4] Scurr I, Wilson L, Lees M, Robertson S, Kirk E, Turner A, Morton J, Kidd A, Shashi V, Stanley C, Berry M, Irvine AD, Goudie D, Turner C, Brewer C, Smithson S (2011) Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype. Am J Med Genet Part A 155: 508–518

[García-Cruz2011-5] 5.0 ^5.1 García-Cruz D, Mampel A, Echeverria MI, Vargas AL, Castañeda-Cisneros G, Davalos-Rodriguez N, Patiño-Garcia B, Garcia-Cruz MO, Castañeda V, Cardona EG, Marin-Solis B, Cantu JM, Nuñez-Reveles N, Moran-Moguel C, Thavanati PK, Ramirez-Garcia S, Sanchez-Corona J (2011) Cantu syndrome and lymphoedema. Clin Dysmorphol 20(1):32-37

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