Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships
| Autor: | Ton van Essen, Hester Y. Kroes, Krystyna M. Sollie, Bert Timmer, Peter G. Barth, Aaltje J. Schram |
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| Přispěvatelé: | Paediatric Neurology, Rijksuniversiteit Groningen |
| Rok vydání: | 2004 |
| Předmět: |
Male
Pathology medicine.medical_specialty Candidate gene etiology Population review Locus (genetics) Prenatal diagnosis HYPERTHERMIA Biology Genetic determinism Fatal Outcome Chromosome 16 medicine Humans Abnormalities Multiple GESTATION education Genetics (clinical) Netherlands Ultrasonography Genetics Brain Diseases education.field_of_study Fetus Suriname prenatal diagnosis Siblings pathogenesis Skull Infant Newborn autosomal recessive DEFECTS Phenotype Radiography Fetal Diseases Microcephaly microhydrancephaly Female fetal brain disruption sequence candidate genes RETARDATION recurrence risk |
| Zdroj: | American journal of medical genetics. Part A, 127A(2), 172-182. Wiley-Liss Inc. American Journal of Medical Genetics. Part A, 127A(2), 172-182. Wiley |
| ISSN: | 1096-8628 0148-7299 1552-4825 |
| Popis: | We present two families with sib recurrence of a phenotype which was originally diagnosed as fetal brain disruption sequence (FBDS). In the first family from the Hindu population of Surinam, two brothers were affected. In the second family of Dutch descent a brother and sister were affected. Periodic ultrasonic sound examinations of brain development of the girl in the second family appeared normal until 26 weeks of gestation after which progressive destruction of her brain was seen. Recurrence of the FBDS in a family is noteworthy as it is usually considered a sporadic disorder. Suggested causes in the literature are viral infections or early vascular interruption of the fetal brain with subsequent massive destruction of cerebral neurons. In 1995 the first familial case of FBDS was described, indicating a genetic cause. Recently Kavaslar et al. [2000: Am J Hum Genet 66:1705–1709.] found a locus on chromosome 16 in a large inbred Anatolian family with a phenotype resembling FBDS. Our experience and the literature show that the cause of the phenotype “FBDS” is heterogeneous. In case of sib recurrence the term FBDS should be avoided since a disruption sequence indicates an exogenous and sporadic cause of the disorder. © 2004 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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