Gigantism (Acromegalic in Type)

Schlesinger, Bernard

doi:10.1177/003591573102401012

Cited by 5 publications

(4 citation statements)

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“…Autosomal dominant macrocephaly 6 Weaver-Smith syndrome 2 Chromosomal rearrangements 2 Marfan syndrome 1 Prader-Willi syndrome 1 remaining subjects did not appear to match any previously reported conditions. Within these 27 cases are two sisters with significant developmental delay and characteristic facies with normal bone age and chromosome analyses.…”

Section: Metacarpophalangeal Pattern Profilesmentioning

confidence: 72%

Sotos syndrome: a study of the diagnostic criteria and natural history.

Cole

Hughes²

1994

Journal of Medical Genetics

289

281

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Section: Metacarpophalangeal Pattern Profilesmentioning

confidence: 72%

Sotos syndrome: a study of the diagnostic criteria and natural history.

Cole

Hughes²

1994

Journal of Medical Genetics

289

281

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“…Sotos syndrome is a childhood overgrowth condition, first described in 1964 by Sotos et al [ 1 ], though the first patient described may have been reported in 1931 [ 2 ]. The four major diagnostic criteria were established in 1994 by Cole and Hughes [ 3 ], based on the systematic assessment of 41 typical cases: overgrowth with advanced bone age, macrocephaly, characteristic facial appearance, and learning difficulties.…”

Section: Definitionmentioning

confidence: 99%

Sotos syndrome

Baujat¹,

Cormier‐Daire²

2007

Orphanet J Rare Dis

126

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Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation) are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described.

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“…The clinical features in children suggestive of Sotos syndrome, that is a childhood overgrowth condition, were first described in 1964 by Sotos et al . [22, 23], although the first description of a patient may have been reported in 1931 [24]. The four major diagnostic criteria were established in 1994 by Cole and Hughes [25], based on the systematic assessment of 41 typical cases: overgrowth with advanced bone age, macrocephaly, characteristic facial appearance, and learning difficulties.…”

Section: Discussionmentioning

confidence: 99%

Berlin Heart EXCOR® pediatric ventricular assist device in a patient with Sotos syndrome: a case report

et al. 2019

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Introduction Berlin Heart EXCOR® pediatric ventricular assist device is a mechanical circulatory support device currently used in pediatric patients. Sotos syndrome is a well-described multiple anomaly syndrome characterized by overgrowth, distinctive craniofacial appearance, cardiac abnormalities, and variable learning disabilities. Case presentation We describe a 7-year-old female Caucasian child with classic Sotos syndrome features subjected to implantation of Berlin Heart EXCOR® pediatric biventricular assist device mechanical support. A heart transplant was carried out after a support time of 459 days. After 5 years of follow-up, our patient is clinically stable and the performance of the transplanted heart is excellent. Conclusion This case confirms that Berlin Heart EXCOR® pediatric ventricular assist device can provide satisfactory and safe circulatory support for children with end-stage heart diseases, even in those with Sotos syndrome. The syndrome is not a contraindication to implantation, since the complications are the same as those observed in patients without the syndrome and the prognosis is not affected by the disease.

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Gigantism (Acromegalic in Type)

Cited by 5 publications

References 0 publications

Sotos syndrome: a study of the diagnostic criteria and natural history.

Sotos syndrome: a study of the diagnostic criteria and natural history.

Sotos syndrome

Berlin Heart EXCOR® pediatric ventricular assist device in a patient with Sotos syndrome: a case report

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