Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantu syndrome): A new case with unusual radiological finding

American Journal of Medical Genetics

Volumn 92, Issue 3, 2000, Pages 191-194

  Concolino, D ^a   Formicola, S ^a   Camera, G ^b   Strisciuglio, P ^a  

^a UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^b San Paolo Hospital   (Italy)

Author keywords

Generalized hyperthrichosis; Osteochondrodysplasia

Indexed keywords

ARTICLE; BONE AGE; CARDIOMEGALY; CASE REPORT; CHILD; CHONDRODYSPLASIA; CLINICAL FEATURE; EPIPHYSIS; FEMALE; HUMAN; HYPERTRICHOSIS; LONG BONE; PRESCHOOL CHILD; PRIORITY JOURNAL; RADIODIAGNOSIS; RADIOGRAPHY;

ABNORMALITIES, MULTIPLE; BONE AND BONES; CARDIOMEGALY; CHILD, PRESCHOOL; FEMALE; HUMANS; HYPERTRICHOSIS; OSTEOCHONDRODYSPLASIAS; SYNDROME;

GENETTA;

EID: 0343239042     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000529)92:3<191::AID-AJMG6>3.0.CO;2-K     Document Type: Article

References (10)

1. Cantú JM, García-Cruz D, Sánchez-Coróna JA, Hernádez A, Nazará Z. 1982. A distinct osteochondrodysplasia with hypertrichosis: individualization of a probable autosomal recessive entity. Hum Genet 60:36-41.
2. Figuera LE, Pandolfo M, Dunne PW, Cantú JM, Pratel PI. 1995. Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-q27.1. Nat Genet 10:202-207.
3. García-Cruz D, Sánchez-Coróna J, Nazará Z, García-Cruz MO, Figuera LE, Castaneda V, Cantú JM. 1997. Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome. Am J Med Genet 69:138-151.
4. Greulich WW, Pyle SD. 1950. Radiographic atlas of skeletal development of the hand and wrist. Stanford: Stanford University Press.
5. Jalili IK. 1989. Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition. J Med Genet 26:504-510.
6. Nevin NC, Mulholland HC, Thomas PS. 1996. Congenital hypertrichosis, cardiomegaly, and mild osteochondrodysplasia. Am J Med Genet 66: 33-38.
7. Rosser EM, Kääriäinen K, Hurst JA, Baraitser M, Hall CM, Clayton P, Leonard JV. 1998. Three patients with the osteochondrodysplasia and hypertrichosis syndrome - Cantú syndrome. Clin Dysmorph 7:79-85.
8. Schinzel A, Giedion A 1978. A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. Am J Med Genet 1:361-375.
9. Wiedemann HR, Oldings HD, Oppermann HC, Oster O. 1993. Hirsutism-skeletal dysplasia-mental retardation syndrome with abnormal face and a uric acid metabolism disorder. Am J Med Genet 46:403-409.
10. Witkop CJ. 1971. Heterogeneity in gingival fibromatosis. Birth Defects Orig Art Ser 7(7):210-221.