Contribution of magnetic resonance imaging to the knowledge of CNS malformations related to chromosomal aberrations

Tamraz, J.; Rethoré, M O; Iba-Zizen, M. T.; Lejeune, J; Ea, Cabanis

doi:10.1007/bf00283621

Cited by 14 publications

(4 citation statements)

References 21 publications

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“…Brain abnormalities were restricted to partial or complete agenesis of the corpus callosum in two cases. This defect is frequently found at autopsy or by NMR in WHS (Tamraz et al 1987, Verloes et al 1991.…”

Section: Discussionmentioning

confidence: 93%

The Wolf‐Hirschhorn syndrome in fetuses

et al. 1992

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Wolf‐Hirschhorn syndrome (WHS) with partial deletion of the short arm of chromosome 4 has been exceptionally diagnosed in fetuses. We report prenatal diagnosis of five cases of monosomy 4p. The fetuses were karyotyped for severe intrauterine growth retardation (IUGR) diagnosed on routine ultrasound (US). In addition, cleft‐lip and palate and diaphragmatic hernia respectively were found in two cases. The quantity of amniotic fluid was normal in all cases. At autopsy, the fetuses showed the typical craniofacial dysmorphy but without microcephaly. Major renal hypoplasia was the only constant visceral anomaly. Midline fusion defects were observed in all the fetuses, ranging from minor abnormalities such as scalp defect, hypertelorism, pulmonary isomerism, common mesentery, hypospadias and sacral dimple, to cleft palate, corpus callosum agenesis, ventricular septal defect, and diaphragmatic hernia. On post‐mortem X‐rays, a delayed bone age was always observed. All the placentae were hypotrophic, and two exhibited vascular lesions, although there was no maternal hypertension. Chromosomal studies showed that the breakpoints were within the 4p16 band in three cases, the 4p15 band in one case, and the 4p14 band in one case. The deletion was de novo in four cases, and resulted from a paternal translocation in one case. This study emphasizes the importance of karyotyping all fetuses with IUGR, especially when the quantity of amniotic fluid is normal, and suggests the possibility of recognizing on US the particular phenotype of WHS in utero.

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Section: Discussionmentioning

confidence: 93%

The Wolf‐Hirschhorn syndrome in fetuses

et al. 1992

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“…Most children with syndromic diagnoses will have neuroimaging abnormalities but this knowledge usually adds little to patient management [Tamraz et al, 1987;Gabrielli et al, 1990].…”

Section: Evaluation Of Mental Retardation 473mentioning

confidence: 99%

Evaluation of mental retardation: Recommendations of a consensus conference

et al. 1997

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A Consensus Conference utilizing available literature and expert opinion sponsored by the American College of Medical Genetics in October 1995 evaluated the rational approach to the individual with mental retardation. Although no uniform protocol replaces individual clinician judgement, the consensus recommendations were as follows: 1. The individual with mental retardation, the family, and medical care providers benefit from a focused clinical and laboratory evaluation aimed at establishing causation and in providing counseling, prognosis, recurrence risks, and guidelines for management. 2. Essential elements of the evaluation include a three-generation pedigree: pre-, peri-, and post-natal history, complete physical examination focused on the presence of minor anomalies, neurologic examination, and assessment of the behavioral phenotype. 3. Selective laboratory testing should, in most patients, include a banded karyotype. Fragile X testing should be strongly considered in both males and females with unexplained mental retardation, especially in the presence of a positive family history, a consistent physical and behavioral phenotype and absence of major structural abnormalities. Metabolic testing should be initialed in the presence of suggestive clinical and physical findings. Neuroimaging should be considered in patients without a known diagnosis especially in the presence of neurologic symptoms, cranial contour abnormalities, microcephaly, or macrocephaly. In most situations MRI is the testing modality of choice. 4. Sequential evaluation of the patient, occasionally over several years, is often necessary for diagnosis, allowing for delineation of the physical and behavioral phenotype, a logical approach to ancillary testing and appropriate prognostic and reproductive counseling.

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“…Deletion of a portion of the short arm of chromosome 7 is associated with a recognizable multiple congenital anomalies (MCA) syndrome, which includes retarded growth and development, epicanthal folds, ptosis, "saddle nose", cleft palate, high palate, micrognathia, anomalous pinnae, genital abnormalities? and restricted joint mobility [Baccichetti et al, 1982;Bianchi et al, 1981;Crawfurd et al, 1979;Dhadial and Smith, 1979;Friedrich et al, 1975;F'ryns et al, 1985;Garcia-Esquivel et al, 1986;Hinkel et al, 1988;MarGallo et al, 1977;Marks et al, 1985;McPherson et al, 1976;Miller et al, 1979;Moedjono et al, 1978;Motegi et al, 1985;Muller et al, 1981;Nakagome et al, 1976;Schomig-Spingler et al, 1986;Speleman et al, 1989;Tamraz et al, 1987;Wilson et al, 1973;Winsor et al, 1978;Zackai and Breg, 19731. Craniosynostosis is often seen.…”

Section: Introductionmentioning

confidence: 99%

Chromosome 7p – syndrome: Craniosynostosis with preservation of region 7p2

et al. 1991

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Deletion of a portion of the short arm of chromosome 7 is associated with a recognizable phenotype which often includes craniosynostosis. Recent reports have suggested that craniosynostosis occurs only if there is a deletion involving band 7p21 or the segment distal to that band. We report on a boy who had an interstitial deletion of 7p, not involving band 7p21 or the segment distal to that band, who nevertheless had craniosynostosis. Thus, it appears that the determination of craniosynostosis in this syndrome is more complicated than has been suggested previously.

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Contribution of magnetic resonance imaging to the knowledge of CNS malformations related to chromosomal aberrations

Cited by 14 publications

References 21 publications

The Wolf‐Hirschhorn syndrome in fetuses

The Wolf‐Hirschhorn syndrome in fetuses

Evaluation of mental retardation: Recommendations of a consensus conference

Chromosome 7p – syndrome: Craniosynostosis with preservation of region 7p2

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