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Weaver syndrome

Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly
Also Known As:
Weaver Smith syndrome
Networked: 37 relevant articles (0 outcomes, 1 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Douglas, Jenny: 3 articles (12/2013 - 01/2003)
2. Hanks, Sandra: 3 articles (12/2013 - 01/2003)
3. Rahman, Nazneen: 3 articles (12/2013 - 01/2003)
4. Cormier-Daire, Valérie: 3 articles (02/2010 - 08/2005)
5. Patton, Michael: 2 articles (12/2013 - 12/2011)
6. Ozono, Keiichi: 2 articles (12/2013 - 01/2004)
7. Tatton-Brown, Katrina: 2 articles (12/2013 - 12/2011)
8. Taylor, Clare: 2 articles (12/2013 - 12/2011)
9. Flinter, Frances: 2 articles (12/2013 - 12/2011)
10. Strenger, Volker: 2 articles (12/2013 - 12/2011)

Related Diseases

1. Sotos Syndrome
2. Mental Retardation (Idiocy)
3. Macrocephaly
12/01/1993 - "A pair of twins, a brother and sister, with the complete form of Weaver syndrome (overgrowth, macrocephaly, facial, skeletal, nail and feet anomalies) and their mildly affected mother are reported, suggesting autosomal dominant inheritance. "
11/01/2003 - "In contrast to the high mutation detection rate in Sotos syndrome, none of the patients with Weaver syndrome, unclassified overgrowth/mental retardation and macrocephaly/mental retardation, harbored NSD1 mutations. "
11/01/2003 - "In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with Weaver syndrome, six patients with unclassified overgrowth/mental retardation, and six patients with macrocephaly/mental retardation. "
11/01/1981 - "Main symptoms of the Weaver syndrome are increased birth weight, early overgrowth, macrocephaly, accelerated osseous maturation, typical facies, hoarse, low pitched voice, hypertonia of muscles and mild developmental delay. "
02/15/2003 - "Mental deficiency, alterations in performance, and central nervous system (CNS) abnormalities are discussed in the following overgrowth syndromes: Sotos syndrome, Weaver syndrome, Proteus syndrome, neurofibromatosis type 1, fragile X syndrome, syndromes with neonatal hypoglycemia, Simpson-Golabi-Behmel syndrome, hemihyperplasia, Sturge-Weber syndrome, Bannayan-Riley-Ruvalcaba/Cowden syndrome, macrocephaly-autism syndrome, PEHO syndrome, chromosomal syndromes, and other miscellaneous syndromes."
4. Neoplasms (Cancer)
5. Facies

Related Drugs and Biologics

1. Simpson-Golabi-Behmel syndrome
2. PEHO syndrome
3. Marshall-Smith syndrome