-
Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.Journal of Medical Genetics Apr 1998The simultaneous occurrence of familial neurofibromatosis type 1 (NF1) and an overgrowth syndrome resembling Weaver syndrome was observed in two related cases (a mother...
The simultaneous occurrence of familial neurofibromatosis type 1 (NF1) and an overgrowth syndrome resembling Weaver syndrome was observed in two related cases (a mother and her son). NF1 was confirmed by molecular genetic analysis showing a large deletion at 17q11.2, encompassing the entire NF1 gene. The other symptoms in the two cases were similar to the features reported in Weaver syndrome. Although the combination of NF1 and an overgrowth syndrome resembling Weaver syndrome in this family may be fortuitous, we favour the hypothesis that the deletion of the entire gene has caused this combined phenotype. Possible pathogenetic mechanisms are discussed. The observation suggests a relation between NF1 with an extraordinarily large gene deletion and a Weaver(-like) syndrome. This warrants investigation for deletions in the 17q11.2 region in Weaver(-like) syndrome patients.
Topics: Abnormalities, Multiple; Adult; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 17; Female; Genetic Diseases, Inborn; Growth Disorders; Humans; Male; Neurofibromatosis 1; Syndrome
PubMed: 9598729
DOI: 10.1136/jmg.35.4.323 -
Journal of Medical Genetics May 1997Most report of Weaver syndrome have been sporadic cases and the genetic basis of the syndrome is uncertain. This report of an affected father and daughter provides...
Most report of Weaver syndrome have been sporadic cases and the genetic basis of the syndrome is uncertain. This report of an affected father and daughter provides evidence for autosomal dominant inheritance.
Topics: Abnormalities, Multiple; Adult; Bone Development; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Family Health; Female; Genes, Dominant; Genetic Diseases, Inborn; Growth Disorders; Hand Deformities, Congenital; Humans; Male
PubMed: 9152841
DOI: 10.1136/jmg.34.5.418 -
Journal of Medical Genetics May 1992
Topics: Adult; Aging; Behavior; Child, Preschool; Diagnosis, Differential; Endocrine Glands; Face; Female; Growth Disorders; Humans; Infant; Male; Skull; Syndrome
PubMed: 1583661
DOI: 10.1136/jmg.29.5.332 -
Journal of the Royal Society of Medicine Nov 1989
Topics: Abnormalities, Multiple; Bone Diseases, Developmental; Female; Humans; Infant, Newborn; Psychomotor Disorders; Syndrome
PubMed: 2593121
DOI: 10.1177/014107688908201117 -
The Canadian Veterinary Journal = La... Apr 1988A 15-month-old purebred Brown Swiss heifer was presented because of posterior paresis and ataxia. Histopathological examination of the brain and spinal cord showed...
A 15-month-old purebred Brown Swiss heifer was presented because of posterior paresis and ataxia. Histopathological examination of the brain and spinal cord showed evidence of a mild diffuse degenerative myeloencephalopathy. The most severe degenerative lesions were located in the white matter of the thoracic spinal cord. We believe this to be the first documented case of bovine progressive degenerative myeloencephalopathy ("weaver syndrome") in Canada.
PubMed: 17423028
DOI: No ID Found -
Journal of Medical Genetics Apr 1987A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a...
A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia, and large ears. Like most other patients with Weaver syndrome, she was developmentally delayed, hypertonic, and had a hoarse voice. Other clinical features included prominent finger pads, narrow hyperconvex nails, small and narrow chest, unilateral dislocated distal ulna, and abnormal thoracic vertebrae.
Topics: Abnormalities, Multiple; Age Determination by Skeleton; Bone Diseases, Developmental; Child, Preschool; Face; Female; Humans; Sex; Syndrome
PubMed: 3585940
DOI: 10.1136/jmg.24.4.232 -
Journal of Medical Genetics Jun 1980Several investigators have suggested that the Marshall syndrome and the Weaver syndrome are one entity because of some phenotypic overlap. This paper reviews the...
Several investigators have suggested that the Marshall syndrome and the Weaver syndrome are one entity because of some phenotypic overlap. This paper reviews the findings in nine additional patients with the Marshall syndrome and concludes that the syndromes are two distinct entities. In the Marshall syndrome there is a characteristic facies, failure to thrive in terms of height, weight, and psychomotor development, and early death. In the Weaver syndome the infants thrive too well: weight and heights are much above normal. They also have increased bifrontal diameters, hypertonia, prominent finger pads, and thin, deep-set nails, and the face is quite different from the Marshall facies.
Topics: Bone Diseases, Developmental; Child, Preschool; Diagnosis, Differential; Female; Growth Disorders; Humans; Infant; Male; Phenotype; Syndrome
PubMed: 7401127
DOI: 10.1136/jmg.17.3.174