Abstract |
Two brothers with presumed Baller-Gerold syndrome, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, limb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) association with hydrocephalus, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them. Spontaneous and clastogen-induced breakage was markedly increased in both patients as compared to control individuals. Clinical manifestations and chromosome breakage, consistent with Fanconi anemia, in patients with a prior diagnosis of either Baller-Gerold syndrome, reported earlier in one other patient [Farrell et al., 1994: Am J Med Genet 50:98-99], or with VACTERL association with hydrocephalus, recently reported in 3 patients [Toriello et al., 1991: Proc Greenwood Genet Center 11:142; Porteus et al., 1992: Am J Med Genet 43:1032-1034], underline the clinical heterogeneity of Fanconi anemia and raise the question of whether these syndromes are distinct disorders or phenotypic variations of the same disease.
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Authors | H C Rossbach, M J Sutcliffe, M M Haag, N H Grana, A R Rossi, J L Barbosa |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 61
Issue 1
Pg. 65-7
(Jan 02 1996)
ISSN: 0148-7299 [Print] United States |
PMID | 8741921
(Publication Type: Case Reports, Journal Article)
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Topics |
- Abnormalities, Multiple
(diagnosis, genetics)
- Child, Preschool
- Craniosynostoses
(diagnosis, genetics)
- Cytogenetics
- Diagnosis, Differential
- Fanconi Anemia
(diagnosis, genetics)
- Humans
- Hydrocephalus
(genetics)
- Infant
- Infant, Newborn
- Male
- Nuclear Family
- Radius
(abnormalities)
- Syndrome
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