Episphalosomic Syndrome : A Mca Syndrome Ressembling Fanconi Anemia, with Increased Baseline Level of Chromosome Breaks but No Hypersensivity to Clastogens
[en] We describe a child with facial dysmorphism (trigonocephaly, epicanthus, upturned nose, small ears), thumb hypoplasia, micropenis, jejunal atresia and moderate mental retardation with dysphasia. Cytogenetic workup revealed high spontaneous level of chromosomal aberrations (without specific pattern and no quadriradial figures) and borderline to absent hypersensitivity to mitomycin C, making a diagnosis of Fanconi anemia unlikely. The child described here shares similarities with a small number of previous reports. We suggest to refer to this entity as episphalosomic syndrome. Episphalosomic syndrome shows some clinical overlap with Fanconi anemia, but lacks its cytogenetic hallmark. The hematological complications of Fanconi anemia have not been reported in this entity.
Disciplines :
Genetics & genetic processes
Author, co-author :
Verloes, Alain ; Université de Liège - ULiège > Génétique générale et humaine
JAMAR, Mauricette ; Centre Hospitalier Universitaire de Liège - CHU > Génétique
Dideberg, Vinciane ; Centre Hospitalier Universitaire de Liège - CHU > Génétique
Herens, Christian ; Centre Hospitalier Universitaire de Liège - CHU > PLAN COS
Language :
English
Title :
Episphalosomic Syndrome : A Mca Syndrome Ressembling Fanconi Anemia, with Increased Baseline Level of Chromosome Breaks but No Hypersensivity to Clastogens
Giampietro P.F., Adler-Brecher B., Verlander P.C., Pavlakis S.G., Davis J.G., Auerbach A.D. (1993) The need for more accurate and timely diagnosis in Fanconi anemia: A report from the International Fanconi Anemia Registry. Pediatrics 91:1116-1120.
D'Apolito M., Zelante L., Savoia A. (1998) Molecular basis of Fanconi anemia. Haematologica 83:533-542.
Joenje H., Oostra A.B., Wijker M., Di Summa F.M., Van Berkel C.G., Rooimans M.A., Ebell W., Van Weel M., Pronk J.C., Buchwald M., Arwert F. (1997) Evidence for at least eight Fanconi anemia genes. Am. J. Hum. Genet. 61:940-944.
Alter B.P. (1993) Fanconi's anaemia and its variability. Br. J. Haematol. 85:9-14.
Porteous M.E., Cross I., Burn J. (1992) VACTERL with hydrocephalus: One end of the Fanconi anemia spectrum of anomalies?. Am. J. Med. Genet. 43:1032-1034.
Evans D.G., Rees H.C., Spreadborough A., Campbell D.J., Gau G.S., Pickering E., Hamilton S., Clayton-Smith J. (1994) Radial ray defects, renal ectopia, duodenal atresia and hydrocephalus: The extended spectrum for Fanconi anaemia. Clin. Dysmorphol. 3:200-206.
Milner R.D., Khallouf K.A., Gibson R., Hajianpour A., Mathew C.G. (1993) A new autosomal recessive anomaly mimicking Fanconi's anaemia phenotype. Arch. Dis. Child 68:101-103.
Poole S.R., Smith A.C., Hays T., McGavran L., Auerbach A.D. (1992) Monozygotic twin girls with congenital malformations resembling Fanconi anemia. Am. J. Med. Genet. 42:780-784.
Giampietro P.F., Auerbach A.D., Elias E.R., Gutman A., Zellers N.J., Davis J.G. (1998) New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia. Am. J. Med. Genet. 78:70-75.
Wang H., Hunter A.G., Clifford B., McLaughlin M., Thompson D. (1993) VACTERL with hydrocephalus: Spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance. Am. J. Med. Genet. 47:114-117.
Hunter A., McMurray B. (1993) Malformations of the VATER association plus hydrocephalus in a male infant and his maternal uncle. Proc. Gr. Genet. Center 6:146-147.
