The FG syndrome: 7 new cases

Em, Thompson; Baraitser, M; Rh, Lindenbaum; Zh, Zaidi; Js, Kroll

doi:10.1111/j.1399-0004.1985.tb02043.x

Cited by 34 publications

(8 citation statements)

References 8 publications

(9 reference statements)

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“…Contrary to what initially stated [Thompson et al, 1985; Opitz et al, 1988; Romano et al, 1994], seizures seem to be uncommon, never severe, and well responsive to the usual AEDs.…”

Section: Discussioncontrasting

confidence: 72%

“…Experience with our series of patients suggests that FGS may be more common than previously thought, and not always associated with mental retardation [Thompson et al, 1985; Romano et al, 1994; Opitz et al, 2001]. It should be routinely considered in the evaluation of children and adolescents with developmental delay/mental retardation (DD/MR), particularly if associated with hypotonia and constipation.…”

Section: Discussionmentioning

confidence: 83%

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The FG syndrome: Report of a large Italian series

Battaglia

Chines

Carey

2006

American J of Med Genetics Pt A

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Initially described as a rare MCA/MR syndrome occurring only in boys, due to a recessive mutation on the X chromosome , the FG syndrome (FGS) now emerges as a more common disorder also occurring in girls. Based on over 50 reported cases, FGS is associated with developmental delay (especially speech), hypotonia, postnatal onset relative macrocephaly, prominent forehead, frontal hair upsweep, telecanthus, or ocular hypertelorism, thin vermilion border of the upper lip, relatively short fingers with broad thumbs and halluces, persistent fetal fingertip pads, anal anomalies, and/or constipation. Major malformations are rare, and include pyloric stenosis, anal agenesis, cryptorchidism, hypospadias, and congenital heart defects. Abnormal EEGs and seizures have been reported in almost 70% of patients. Brain MRI shows corpus callosum abnormalities associated with dilatation of lateral ventricles and, less frequently, periventricular nodular heterotopias, mild cerebellar defects, and reduced periventricular white matter. Chiari 1 malformation seems to be frequent. The behavior phenotype appears to be characterized by ADHD, and relatively less developed language, fine motor and executive function skills; whereas visual-spatial abilities seem to be a relative strength. Five candidate loci are already known but no gene identified. We describe 25 patients referred to the Stella Maris Institute for evaluation of DD/MR, and diagnosed as FGS. They were between 2 and 15½ years at the first observation. High resolution banding, FRAXA/FRAXE DNA analysis, and subtelomere FISH analysis were performed in all of them, and all had normal results. Thirteen patients were followedup from 6 months to 9 years. Our report focuses on physical, neurological, developmental findings, and natural history of FGS. Experience with our series of patients suggests that the syndrome may be common, and should be routinely considered in the evaluation of children and adolescents with DD/MR. ß

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“…Contrary to what initially stated [Thompson et al, 1985; Opitz et al, 1988; Romano et al, 1994], seizures seem to be uncommon, never severe, and well responsive to the usual AEDs.…”

Section: Discussioncontrasting

confidence: 72%

Section: Discussionmentioning

confidence: 83%

The FG syndrome: Report of a large Italian series

Battaglia

Chines

Carey

2006

American J of Med Genetics Pt A

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“…As a result, FGS is now considered by some a common disorder 5 7. However, many features reported in FGS, such as constipation, are non-specific and may lead to over diagnosis 8 – 10. In addition, the lack of knowledge of the underlying genetic defect has hampered attempts to delineate the clinical phenotype better.…”

mentioning

confidence: 99%

Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome

Lyons

Graham

Neri³

et al. 2008

Journal of Medical Genetics

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This report illustrates the difficulty in making a clinical diagnosis of FGS given the broad spectrum of signs and symptoms that have been attributed to the syndrome. Individuals with a phenotype consistent with FGS require a thorough genetic evaluation including MED12 mutation analysis. Further genetic testing should be considered in those who test negative for a MED12 mutation to search for an alternative diagnosis.

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“…These facial characteristics have not changed signif- Dallapiccolla et al 1984, Nzri et al 1984, Opitz & Kaveggia 1974, Opitz et al 1982, Romano et al 1994, Sarda et al 1989, Thompson et al 1985, Thompson & Baraitser 1987, Wieg & Meinecke 1991 to evaluate whether other males with the triad hypotonia, constipation, peculiar face with nasal hypoplasia were reported in the past. In only two reports (Bum & Martin 1983, Thompson et al 1985) did we find convincing evidence of an affected male with similar craniofacial findings. Bum & Martin (1983) reported two male cousins with 'odd facies, hypotonia and severe constipationa possible example of the X-linked FG syndrome'.…”

Section: Discussionmentioning

confidence: 99%

Distinct facial appearance with nasal hypoplasia, constipation, severe mental retardation and hypotonia in two unrelated young males

Troch

Mol²,

Vandenbossche³

1996

Clinical Genetics

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In this report we describe two unrelated young males with severe mental retardation, persisting hypotonia, and constipation. A maternal uncle of one of these two boys died at the age of 18 months and presented the same clinical symptoms. The triad mental retardation, hypotonia, constipation is a characteristic finding in the FG syndrome, an X‐linked mental retardation syndrome. At the present time, there is increasing evidence that the FG syndrome‐phenotype may be present in different XLMR conditions, e.g. the fragile X syndrome. In addition to the triad severe mental retardation, hypotonia, constipation, the present two male index patients had a characteristic facial appearance with nasal hypoplasia, relative microcephaly and pre‐and postnatal overgrowth. The question is raised whether the present two males are examples of a specific entity within the FG‐syndrome‐like phenotype.

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The FG syndrome: 7 new cases

Cited by 34 publications

References 8 publications

The FG syndrome: Report of a large Italian series

The FG syndrome: Report of a large Italian series

Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome

Distinct facial appearance with nasal hypoplasia, constipation, severe mental retardation and hypotonia in two unrelated young males

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