Early Fatal Course in Three Brothers with FG Syndrome

Sorge, Giovanni; Polizzi, Agata; Ruggieri, Martino; Smilari, Pierluigi; Mauceri, Laura

doi:10.1177/000992289603500706

Cited by 10 publications

(24 citation statements)

References 7 publications

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“…Partial agenesis of the corpus callosum was noted in at least one of the initial cases, and in recent years, partial agenesis of the corpus callosum has been reported in a number of cases [Richieri-Costa, 1986;Opitz et al, 1988;Kato et al, 1994;Sorge et al, 1996]. Opitz et al [1982] suggested that the diagnosis of FG syndrome be considered in boys with congenital hypotonia and anorectal anomalies, and in older males with mental retardation, congenital hypotonic joint contractures, chronic constipation, and characteristic facial appearance and personality.…”

Section: Discussionmentioning

confidence: 99%

“…Congenital hypotonia secondary to central nervous system involvement also appears to be a very important distinguishing feature of this syndrome. Other distinctive findings include abnormal pinnae (small, rounded, and protruding), ocular hypertelorism, epilepsy, sensorineural hearing loss, craniosynostosis, pectus excavatum, scoliosis, pyloric stenosis, cryptorchidism, hypospadius, hernia, single transverse palmar creases, syndactyly, and camptodactyly [Opitz et al, 1982;Neri et al, 1984;Bianchi, 1984; Richieri-Costa, 1986; Thompson and Baraitser, 1987;Opitz et al, 1988;Kato et al, 1994;Romano et al, 1994;Sorge et al, 1996;Graham et al, 1998]. …”

Section: Discussionmentioning

confidence: 99%

“…Their congenital hypotonia with joint hyperlaxity usually progresses to contractures with spasticity and unsteady gait in later life [Romano et al, 1994]. Death during infancy has been reported in as many as a third of patients, as a consequence of bronchopulmonary problems and/or heart defects, but once patients have survived infancy, death is rare [Opitz et al, 1982;Thompson and Baraitzer, 1987;Sorge et al, 1996]. The presence of subtle facial anomalies (macrocephaly, broad forehead with frontal upsweep, and broad thumbs and toes with persistent fetal pads) and characteristic personality facilitate diagnosis in midchildhood, particularly when there are other affected male relatives in the maternal family.…”

Section: Discussionmentioning

confidence: 99%

“…The Child Behavior Checklist (CBCL) uses a threepoint scales (0 ‫ס‬ not true; 1 ‫ס‬ sometimes true; 2 ‫ס‬ often true) to assess internalizing problems (withdrawn, somatic complaints, anxious/depressed) and externalizing problems (delinquent behavior, aggressive behavior). Other clinical domains include social Kato et al [1994] and Sorge et al [1996]. Cases 1, 3, 4, 5, and 6 were published in Graham et al [1998], and case 7 is a new sporadic case.…”

Section: Methodsmentioning

confidence: 99%

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Clinical and behavioral characteristics in FG syndrome

et al. 1999

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FG syndrome is a rare X-linked recessive form of mental retardation, first described by Opitz and Kaveggia in 1974. Based on over 50 reported cases, FG syndrome is associated with agenesis of the corpus callosum, minor facial anomalies (high, broad forehead with frontal cowlick, ocular hypertelorism, down-slanted palpebral fissures, and small cupped auricles), relative macrocephaly, broad thumbs and halluces, and prominent fetal fingertip pads. Affected individuals manifest neonatal hypotonia and severe constipation, which usually resolves during mid-childhood. The hypotonia with joint hyperlaxity evolves into spasticity with joint contractures in later life. Affability, hyperactivity, and excessive talkativeness are noted frequently in patients with FG syndrome. Recently, we described three additional families (six additional patients) with FG syndrome who support the localization of a gene for the FG syndrome in chromosome region Xq12-q21 [Graham JM Jr, Tackels D, Dibbern K, Superneau D, Rodgers C, Corning K, Schwartz CE. 1998. Am J Med Genet 80:145-156.]. Using these same families and one additional sporadic case of FG syndrome, we compared behavioral and personality characteristics of 6 FG boys with other boys with syndromic and nonsyndromic mental retardation: eight with Down syndrome, seven with Prader-Willi syndrome, eight with nonspecific mental retardation, and 13 with Williams syndrome. Using the Vineland Adaptive Behavior Scales, the Reiss Personality Profiles, and the Achenbach Child Behavior Checklist, parents were asked to characterize the behavior and personality of their boys from ages 4 to 10 years. When compared with Williams syndrome, the FG boys had fewer internalizing behaviors and were significantly less anxious and withdrawn but had similar socially oriented, attention-seeking behaviors. On the Reiss Profile, FG boys were also quite similar to Williams syndrome boys. On the Vineland Scales, FG boys demonstrated significant relative strengths in their socialization skills, consistent with their personality, tending to confirm previous descriptions of their personalities.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Clinical and behavioral characteristics in FG syndrome

et al. 1999

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“…There may be EEG abnormalities with or without seizures [Opitz et al, 1982;Riccardi et al, 1977], and agenesis or thinning of the corpus callosum [Blanco and Boehme, 1986;Opitz and Kaveggia, 1974;Thompson et al, 1985Thompson et al, , 1986. Increased susceptibility to upper respiratory infections in many boys is linked to high infant mortality [Sorge et al, 1996;Thompson and Baraitser, 1987]. There have also been reports of cardiac defects [Neri et al, 1984;Opitz and Kaveggia, 1974].…”

Section: Introductionmentioning

confidence: 99%

Esophageal dysmotility in brothers with an FG-like syndrome

et al. 2000

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We present 4 brothers with developmental delay, minor anomalies, and symptoms due to gastrointestinal dysmotility. There was some resemblance with FG syndrome, although none of the brothers had sufficient findings to make this diagnosis. The index case presented with at age 1 month with screaming episodes, mild gastro-esophageal reflux (GER), and severe constipation. Esophageal manometry studies were consistent with the diagnosis of "nutcracker esophagus." Symptomatic and manometric improvement followed treatment with oral calcium channel blockers. Two older and less severely affected brothers had similar manometric findings but did not require treatment. A fourth brother with symptoms in infancy now has normal esophageal manometry findings. These boys in all likelihood have an X-linked syndrome with manifestations of FG syndrome, in which treatment with calcium channel blockers, produces clinical and manometric improvement. The FG syndrome is an X-linked syndrome of multiple congenital anomalies/mental retardation with facultative manifestations of gastrointestinal dysmotility, including gastro-esophageal reflux, severe feeding difficulties, and constipation. Esophageal dysmotility, in particular "nutcracker esophagus," should be suspected in infants with the FG syndrome and screaming attacks.

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FG syndrome: Report of three new families with linkage to xq12-q22.1

et al. 1998

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FG syndrome is a rare X-linked recessive form of mental retardation, first described by Opitz and Kaveggia in 1974 in five related males with mental retardation, disproportionately large heads, imperforate anus, and congenital hypotonia. Partial agenesis of the corpus callosum was noted in at least one of the initial cases and has been seen in a number of subsequently-reported cases. The associated congenital hypotonia with joint hyperlaxity tends to progress to contractures with spasticity and unsteady gait in later life. The presence of subtle facial abnormalities and the characteristic behavior in midchildhood facilitate diagnosis at this age, particularly when there are other affected male relatives in the maternal family. Recently, Briault et al. [1997] mapped a gene for FG syndrome to the Xq12-q21.31 region. We describe three additional families (six additional patients) with FG syndrome on whom we have conducted linkage analysis. Our findings support the localization of a gene for the FG syndrome in Xq12-q21. In addition, we have noted skewed X-inactivation in carrier females, as well as new associated findings in affected males of sagittal craniosynostosis and split hand malformation.

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Early Fatal Course in Three Brothers with FG Syndrome

Cited by 10 publications

References 7 publications

Clinical and behavioral characteristics in FG syndrome

Clinical and behavioral characteristics in FG syndrome

Esophageal dysmotility in brothers with an FG-like syndrome

FG syndrome: Report of three new families with linkage to xq12-q22.1

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