Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance

Fitzsimmons, J S; Zaldua, V; Chrispin, A R

doi:10.1136/jmg.21.5.364

Cited by 26 publications

(24 citation statements)

References 4 publications

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“…Temtany and McKusick [9] observed that FSS affected two generations of three different families. However, there are also reports of the syndrome suggesting an autosomal recessive inheritance; in other words, of affected children born to parents who were clinically normal but possible carriers (heterozygotic) of the gene responsible for the syndrome [10][11][12][13][14].…”

Section: Introductionmentioning

confidence: 99%

Freeman-Sheldon Syndrome Presenting with Microstomia: A Case Report and Literature Review

Gurjar¹,

Parushetti²,

Gurjar³

2012

J. Maxillofac. Oral Surg.

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Freeman-Sheldon syndrome (FSS), as first described by Freeman and Sheldon in 1938, is a morphologically well-defined syndrome that results in a dysmorphic status combining bone anomalies and joint contractures with characteristic facies. It is part of the nosologic group of pathologies currently known as distal arthrogryposis as reported by Hall et al. (Am J Med Genet 11:185-239, 1982 [1]). It is a rare disorder and its exact prevalence is unknown. Our objective is to report a case of FSS presenting with microstomia and add a brief review of the literature for similar cases.

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Section: Introductionmentioning

confidence: 99%

Freeman-Sheldon Syndrome Presenting with Microstomia: A Case Report and Literature Review

Gurjar¹,

Parushetti²,

Gurjar³

2012

J. Maxillofac. Oral Surg.

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“…1977; Kousseff et al, 1982;Fitzsimmons et al, 1984;Sanchez and Kaminker, 1986;Bonioli et al, 1987;Wang and Lin, 1987). Although the dominant form is fully established by several reports [McKusick, 1988, no.…”

Section: Introductionmentioning

confidence: 93%

Autosomal recessive form of whistling face syndrome in sibs

Dallapiccola¹,

Giannotti

Lembo

et al. 1989

Am. J. Med. Genet.

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Two sibs with the whistling face syndrome, born to unaffected parents, are presented. They had the full facial and limb manifestations typical of this disorder, for which there is evidence of autosomal dominant inheritance. The existence of an autosomal recessive form of this syndrome has been suspected previously on the basis of a limited number of observations. Our study substantiates genetic heterogeneity of this condition and suggests that the autosomal recessive form could be even less rare than is generally considered.

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“…In whistling face syndrome, feeding problems occur mainly due to microstomia [3][4][5]. Microstomia and tris mus are due to fibrosis and atrophy of the muscles about the mouth.…”

Section: Discussionmentioning

confidence: 99%

Freeman-Sheldon Syndrome (Whistling Face Syndrome) and Cranio-Vertebral Junction Malformation Producing Dysphagia and Weight Loss

et al. 1996

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The whistling face syndrome has been reported, with complications of the respiratory system and feeding problems due to microstomia, since 1938. Dysphagia, however, has not previously been reported as a complication of whistling face syndrome. We report a 13-year-old with the whistling face syndrome and dysphagia of late onset who has the typical whistling face, scoliosis and multiple joint contractures. Dysphagia occurred as a result of compression at the cervicomedullary junction by a cranio-vertebral junction malformation and impingement by the tip of the odontoid process. This child had undergone multiple surgical procedures for cleft palate, clubfeet, contractures of the hip and knee and scoliosis. Halo traction and posterior occipital-cervical decompression and fusion successfully treated the dysphagia.

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Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance

Abstract: SUMMARY We report two sibs with the clinical features of the Freeman-Sheldon syndrome. The parents were unaffected and consanguineous, suggesting recessive inheritance.

Cited by 26 publications

References 4 publications

Freeman-Sheldon Syndrome Presenting with Microstomia: A Case Report and Literature Review

Freeman-Sheldon Syndrome Presenting with Microstomia: A Case Report and Literature Review

Autosomal recessive form of whistling face syndrome in sibs

Freeman-Sheldon Syndrome (Whistling Face Syndrome) and Cranio-Vertebral Junction Malformation Producing Dysphagia and Weight Loss

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