Smith-Fineman-Myers syndrome in apparently monozygotic twins

Guion‐Almeida, Maria Leine; Tabith, Alfredo; Kokitsu-Nakata, Nancy Mizue; Zechi, R.M.

doi:10.1002/(sici)1096-8628(19980923)79:3<205::aid-ajmg11>3.0.co;2-l

Cited by 5 publications

(6 citation statements)

References 4 publications

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“…It is by no means certain that all reports of Smith–Fineman–Myers syndrome reported, to date, share the same underlying genetic entity. [Smith et al, 1980; Stephenson and Johnson, 1985; Adès et al, 1991; Wei et al, 1993; Guion‐Almeida et al, 1998]. As with our own patient, Adès et al [1991] observed Howell–Jolly bodies in the peripheral blood film of Case 1 of that report, leading to a diagnosis of congenital asplenia.…”

Section: Discussionsupporting

confidence: 67%

“…The entity known as Smith–Fineman–Myers syndrome stems from the 1980 report of brothers with mental retardation, seizures, neurological dysfunction, and short stature [Smith et al, 1980]. Subsequent cases considered to have the same disorder have been reported by Stephenson and Johnson [1985], Wei et al [1993], Guion‐Almeida et al [1998], and Adès et al [1991]. In general, the facial features of subjects reported have not been noteworthy, with the exception of the Ades et al report.…”

Section: Introductionmentioning

confidence: 99%

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Evaluation of the biocompatibility and osteoproductive activity of ostrich eggshell powder in experimentally induced calvarial defects in rabbits

et al. 2007

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The purpose of this study was to investigate the beneficial effects of particulate ostrich eggshell grafting on the healing of experimentally induced skull defects. The clinical, radiological, histological, and histomorphometrical findings of this material were compared with the results of commercially available demineralized bone matrix (DBM). The study was conducted on 18 adult New Zealand rabbits. One defect served as a control and the remaining ones either were filled with different sized eggshell particles or DBM, in each animal. Clinical and radiological inspections and histologic investigations of the animals were done at the 1st, 3rd, and 6th months of postoperative period. Radiologically, minimal bone regeneration was observed at the empty, control defect sites. The most advanced bone regeneration was in the DBM grafted defects. The eggshell particle grafted defect sites displayed weak bone regeneration at earlier stages, at 1st and 3rd months after operation when compared with demineralized bone matrix. Nevertheless, ossification was satisfactory at 6th month after operation when compared with the control defects. Within the limitations of this study, it was concluded that Ostrich eggshell powder (OSP) is a worth-while bone substitute because it is a safe, cheap, and easily available material. Long-term studies will clarify its possible role in maxillofacial surgery. Further sophisticated experiments should be undertaken before human implantation concerning its osteoproductive activity alone or in combination with other materials.

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Section: Discussionsupporting

confidence: 67%

Section: Introductionmentioning

confidence: 99%

Evaluation of the biocompatibility and osteoproductive activity of ostrich eggshell powder in experimentally induced calvarial defects in rabbits

et al. 2007

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“…It is by no means certain that all reports of Smith-Fineman-Myers syndrome reported, to date, share the same underlying genetic entity. [Smith et al, 1980;Stephenson and Johnson, 1985;Adès et al, 1991;Wei et al, 1993;Guion-Almeida et al, 1998]. As with our own patient, Adès et al [1991] observed Howell-Jolly bodies in the peripheral blood film of Case 1 of that report, leading to a diagnosis of congenital asplenia.…”

Section: Discussionsupporting

confidence: 60%

“…The entity known as Smith-Fineman-Myers syndrome stems from the 1980 report of brothers with mental retardation, seizures, neurological dysfunction, and short stature [Smith et al, 1980]. Subsequent cases considered to have the same disorder have been reported by Stephenson and Johnson [1985], Wei et al [1993], Guion-Almeida et al [1998], and Adès et al [1991]. In general, the facial features of subjects reported have not been noteworthy, with the exception of the Ades et al report.…”

Section: Introductionmentioning

confidence: 99%

Asplenia in ATR‐X syndrome: A second report

Leahy¹,

Philip²,

Gibbons

et al. 2005

American J of Med Genetics Pt A

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Mutation at the ATR-X locus is associated with severe mental retardation. Several conditions, initially reported as clinically distinct phenotypes, have now been attributed to ATR-X mutation. Asplenia, in association with severe mental retardation, has been reported and subsequently demonstrated in one family to be due to ATR-X mutation. We now report on a second instance of a patient presenting with mental retardation and asplenia who has been shown to have a mutation at the ATR-X locus.

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“…[32][33][34] Patients reported as having Smith-Fineman-Myers indeed harbored a mutation in the XNP gene. 35 Finally, it appears that also the Chudley-Lowry syndrome (309490) results from a null mutation of the XNP gene.…”

Section: Xnp (X-linked Nuclear Protein) Genementioning

confidence: 99%

X-Linked Mental Retardation (XLMR): From Clinical Conditions to Cloned Genes

Chiurazzi¹,

Tabolacci²,

Neri³

2004

Critical Reviews in Clinical Laboratory Sciences

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X-linked mental retardation (XLMR) is a heterogenous set of conditions responsible for a large proportion of inherited mental retardation. Approximately 200 XLMR conditions and 45 cloned genes are now listed in our catalogue on the Internet at http://xlmr.interfree.it/home.htm. Traditionally, XLMR conditions were subdivided into specific (MRXS) and nonspecific (MRX) forms, depending on their clinical presentation. Now that a growing number of candidate genes have become available for screening XLMR families and patients, this distinction is becoming less useful and similar conditions that had been previously listed as separate can now be grouped together because different mutations in the same gene have been identified. Furthermore, different mutations in the same XLMR gene may account for diseases of increasing severity, but can also cause different phenotypes. As the functions of proteins corresponding to these genes are characterized, biological networks involved in causing mental retardation and conversely in supporting normal intellectual functioning will be discovered. Molecular biologists and neurobiologists will need to cooperate in order to verify the effects of XLMR gene mutations in the context of neuronal circuitry. Eventually, DNA and protein microarray technologies will assist researchers and physicians in reaching a diagnosis even in small families or in individual patients with XLMR.

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Smith-Fineman-Myers syndrome in apparently monozygotic twins

Cited by 5 publications

References 4 publications

Evaluation of the biocompatibility and osteoproductive activity of ostrich eggshell powder in experimentally induced calvarial defects in rabbits

Evaluation of the biocompatibility and osteoproductive activity of ostrich eggshell powder in experimentally induced calvarial defects in rabbits

Asplenia in ATR‐X syndrome: A second report

X-Linked Mental Retardation (XLMR): From Clinical Conditions to Cloned Genes

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