The syndromes of Sotos and Weaver

Reports and review

John M. Opitz, David Weaver, James F. Reynolds

Research output: Contribution to journalArticle

103 Citations (Scopus)

Abstract

The syndromes of Sotos and Weaver are paradigmatic of the daily nosologic difficulties faced by clinical geneticists attempting to diagnose and counsel, and to give accurate prognoses in cases of extensive phenotypic overlap between molecularly undefined entities. Vertebrate development is constrained into only very few final or common developmental paths; therefore, no developmental anomaly seen in humans is unique to ('pathognomonic' of) one syndrome. Thus, it is not surprising that prenatal overgrowth occurs in several syndromes, including the Sotos and Weaver syndromes. Are they sufficiently different in other respects to allow the postulation of locus (rather than allele) heterogeneity? Phenotypic data in both conditions are biased because of ascertainment of propositi, and the apparent differences between them may be entirely artificial as they were between the G and BBB syndromes. On the other hand, the Sotos syndrome may be a cancer syndrome, the Weaver syndrome not (though a neuroblastoma was reported in the latter); in the former there is also remarkably advanced dental maturation rarely commented on in the latter. In Weaver syndrome there are more conspicuous contractures and a facial appearance that experts find convincingly different from that of Sotos individuals. Nevertheless, the hypothesis of locus heterogeneity is testable; at the moment we are inclined to favor the hypothesis of allele heterogeneity. An international effort is required to map, isolate, and sequence the causal gene or genes.

Original languageEnglish
Pages (from-to)294-304
Number of pages11
JournalAmerican Journal of Medical Genetics
Volume79
Issue number4
DOIs
StatePublished - Oct 2 1998

Fingerprint

Sotos Syndrome
Alleles
Contracture
Neuroblastoma
Genes
Vertebrates
Tooth
Weaver syndrome
Neoplasms

Keywords

  • Autosomal dominant inheritance
  • Heterogeneity
  • Nosology
  • Sotos syndrome
  • Weaver syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

The syndromes of Sotos and Weaver : Reports and review. / Opitz, John M.; Weaver, David; Reynolds, James F.

In: American Journal of Medical Genetics, Vol. 79, No. 4, 02.10.1998, p. 294-304.

Research output: Contribution to journalArticle

Opitz, John M. ; Weaver, David ; Reynolds, James F. / The syndromes of Sotos and Weaver : Reports and review. In: American Journal of Medical Genetics. 1998 ; Vol. 79, No. 4. pp. 294-304.
@article{68b2c3cdf3674b519aeda54d44af7048,
title = "The syndromes of Sotos and Weaver: Reports and review",
abstract = "The syndromes of Sotos and Weaver are paradigmatic of the daily nosologic difficulties faced by clinical geneticists attempting to diagnose and counsel, and to give accurate prognoses in cases of extensive phenotypic overlap between molecularly undefined entities. Vertebrate development is constrained into only very few final or common developmental paths; therefore, no developmental anomaly seen in humans is unique to ('pathognomonic' of) one syndrome. Thus, it is not surprising that prenatal overgrowth occurs in several syndromes, including the Sotos and Weaver syndromes. Are they sufficiently different in other respects to allow the postulation of locus (rather than allele) heterogeneity? Phenotypic data in both conditions are biased because of ascertainment of propositi, and the apparent differences between them may be entirely artificial as they were between the G and BBB syndromes. On the other hand, the Sotos syndrome may be a cancer syndrome, the Weaver syndrome not (though a neuroblastoma was reported in the latter); in the former there is also remarkably advanced dental maturation rarely commented on in the latter. In Weaver syndrome there are more conspicuous contractures and a facial appearance that experts find convincingly different from that of Sotos individuals. Nevertheless, the hypothesis of locus heterogeneity is testable; at the moment we are inclined to favor the hypothesis of allele heterogeneity. An international effort is required to map, isolate, and sequence the causal gene or genes.",
keywords = "Autosomal dominant inheritance, Heterogeneity, Nosology, Sotos syndrome, Weaver syndrome",
author = "Opitz, {John M.} and David Weaver and Reynolds, {James F.}",
year = "1998",
month = "10",
day = "2",
doi = "10.1002/(SICI)1096-8628(19981002)79:4<294::AID-AJMG12>3.0.CO;2-M",
language = "English",
volume = "79",
pages = "294--304",
journal = "American Journal of Medical Genetics, Part C: Seminars in Medical Genetics",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - The syndromes of Sotos and Weaver

T2 - Reports and review

AU - Opitz, John M.

AU - Weaver, David

AU - Reynolds, James F.

PY - 1998/10/2

Y1 - 1998/10/2

N2 - The syndromes of Sotos and Weaver are paradigmatic of the daily nosologic difficulties faced by clinical geneticists attempting to diagnose and counsel, and to give accurate prognoses in cases of extensive phenotypic overlap between molecularly undefined entities. Vertebrate development is constrained into only very few final or common developmental paths; therefore, no developmental anomaly seen in humans is unique to ('pathognomonic' of) one syndrome. Thus, it is not surprising that prenatal overgrowth occurs in several syndromes, including the Sotos and Weaver syndromes. Are they sufficiently different in other respects to allow the postulation of locus (rather than allele) heterogeneity? Phenotypic data in both conditions are biased because of ascertainment of propositi, and the apparent differences between them may be entirely artificial as they were between the G and BBB syndromes. On the other hand, the Sotos syndrome may be a cancer syndrome, the Weaver syndrome not (though a neuroblastoma was reported in the latter); in the former there is also remarkably advanced dental maturation rarely commented on in the latter. In Weaver syndrome there are more conspicuous contractures and a facial appearance that experts find convincingly different from that of Sotos individuals. Nevertheless, the hypothesis of locus heterogeneity is testable; at the moment we are inclined to favor the hypothesis of allele heterogeneity. An international effort is required to map, isolate, and sequence the causal gene or genes.

AB - The syndromes of Sotos and Weaver are paradigmatic of the daily nosologic difficulties faced by clinical geneticists attempting to diagnose and counsel, and to give accurate prognoses in cases of extensive phenotypic overlap between molecularly undefined entities. Vertebrate development is constrained into only very few final or common developmental paths; therefore, no developmental anomaly seen in humans is unique to ('pathognomonic' of) one syndrome. Thus, it is not surprising that prenatal overgrowth occurs in several syndromes, including the Sotos and Weaver syndromes. Are they sufficiently different in other respects to allow the postulation of locus (rather than allele) heterogeneity? Phenotypic data in both conditions are biased because of ascertainment of propositi, and the apparent differences between them may be entirely artificial as they were between the G and BBB syndromes. On the other hand, the Sotos syndrome may be a cancer syndrome, the Weaver syndrome not (though a neuroblastoma was reported in the latter); in the former there is also remarkably advanced dental maturation rarely commented on in the latter. In Weaver syndrome there are more conspicuous contractures and a facial appearance that experts find convincingly different from that of Sotos individuals. Nevertheless, the hypothesis of locus heterogeneity is testable; at the moment we are inclined to favor the hypothesis of allele heterogeneity. An international effort is required to map, isolate, and sequence the causal gene or genes.

KW - Autosomal dominant inheritance

KW - Heterogeneity

KW - Nosology

KW - Sotos syndrome

KW - Weaver syndrome

UR - http://www.scopus.com/inward/record.url?scp=0032475886&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0032475886&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1096-8628(19981002)79:4<294::AID-AJMG12>3.0.CO;2-M

DO - 10.1002/(SICI)1096-8628(19981002)79:4<294::AID-AJMG12>3.0.CO;2-M

M3 - Article

VL - 79

SP - 294

EP - 304

JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

SN - 1552-4825

IS - 4

ER -