Episphalosomic syndrome : a MCA syndrome ressembling Fanconi anemia, with increased baseline level of chromosome breaks but no hypersensivity to clastogens

doi:10.1016/S0003-3995(01)01043-7

Annales de Génétique

Volume 44, Issue 2, April–June 2001, Pages 59-62

https://doi.org/10.1016/S0003-3995(01)01043-7 Get rights and content

Abstract

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.

Section snippets

Case report

The proband is the product of a dizygotic twin pregnancy obtained after in vitro fertilization requested because of maternal hyperandrogenism and endometriosis. Belgian parents were not consanguineous, in good health, aged 30 years and 27 years respectively. The twins were delivered at 36 weeks of gestation. The boy weighted 2150g (p10-p25), was 44 cm long (p10-p25) and had an OFC of 31.4 cm (p25). During the first week, signs of high intestinal obstruction became patent, and he was transferred

Discussion

The child described here shows an unusual combination of facial dysmorphism (trigonocephaly, epicanthus, upturned nose, small ears), thumb hypoplasia, micropenis and jejunal atresia. Although some key features were absent, thumb hypoplasia, small head circumference and mental delay clinically raised the hypothesis of Fanconi anemia (FA).

FA is a recessively inherited condition whose clinical hallmarks are pancytopenia (mean age of onset of about 8 years), hypoplasia of the thumbs, radial

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Case ReportEpisphalosomic syndrome : a MCA syndrome ressembling Fanconi anemia, with increased baseline level of chromosome breaks but no hypersensivity to clastogens

Abstract

Section snippets

Case report

Discussion

Am. J. Hum. Genet.

Fanconi anemia: constitutional aplastic anemia

Semin. Hematol.

The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry

Pediatrics

Molecular basis of Fanconi anemia

Haematologica

Fanconi's anaemia and its variability

Br. J. Haematol.

VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?

Am. J. Med. Genet.

Case Report
Episphalosomic syndrome : a MCA syndrome ressembling Fanconi anemia, with increased baseline level of chromosome breaks but no hypersensivity to clastogens