Novel findings in a patient with weaver or a weaver-like syndrome

American Journal of Medical Genetics

Volumn 63, Issue 2, 1996, Pages 378-381

  Scarano, Gioacchino ^a   Della Monica, Matteo ^a   Lonardo, Fortunato ^a   Neri, Giovanni ^b  

^a S G MOSCATI HOSPITAL   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

Author keywords

advanced bone age; bone demineralisation; camptodactyly; mental and speech retardation; new syndrome; overgrowth; Weaver syndrome

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE AGE; BONE DEMINERALIZATION; CAMPTODACTYLY; CASE REPORT; CHILD; GROWTH DISORDER; HUMAN; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SPEECH DISORDER; SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; FOOT DEFORMITIES, CONGENITAL; GROWTH DISORDERS; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; MENTAL RETARDATION; SPEECH DISORDERS; SYNDROME;

EID: 0029975594     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960517)63:2<378::AID-AJMG10>3.0.CO;2-H     Document Type: Article

References (16)

1. Ardinger HH, Hanson JW, Harrod MJE, Cohen MM, Tibbles JAR, Welch JP, Young-Wee T, Sommer A, Goldberg R, Shprintzen RJ, Sidoti EJ, Leictman LG, Hoyme HE (1986): Further delineation of Weaver syndrome. J Pediatr 108:228-235.
2. Cohen MM (1989): A comprehensive and critical assessment of overgrowth and overgrowth syndromes. In Harris H, Hirshhorn K (eds): "Advances in Human Genetics 18". New York and London: Plenum Press, pp. 181-303.
3. Cole TRP, Dennis NR, Hughes HE (1992): Weaver syndrome. J Med Genet 29:332-337.
4. Dumic M, Vukovic J, Cvitkovic M, Medica I (1993): Twins and their mildly affected mother with Weaver syndrome. Clin Genet 44:338-440.
5. Fitch N (1980): The syndromes of Marshall and Weaver. J Med Genet 17:174-178.
6. Gemme G, Bonioli E, Ruffa G, Lagorio V, (1980): The Weaver-Smith syndrome. J Pediatr 97:962-964.
7. Kondo I, Mori Y, Kuwajima K (1990): A Japanese male infant with the Weaver syndrome. Jpn J Human Genet 35:257-262.
8. McKusick VA (1994): "Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders." Baltimore and London: The Johns Hopkins University Press.
9. Meniecke P, Schaefer E, Engelbrecht R (1983): The Weaver syndrome in a girl. Eur J Pediatr 141:58-59.
10. Muhonen MG, Menezes AH (1990): Weaver syndromes and instability of the upper cervical spine. J Pediatr 116:596-599.
11. Ramos-Arroyo MA, Weaver DD, Banks ER (1991): Weaver Syndrome: a case without early overgrowth and review of the literature. Pediatrics 88:1106-1111.
12. Roussinis SH, Crawford MJ (1983): Siblings with Weaver syndrome. J Pediatr 102:595-597.
13. Shimura T, Utsumi Y, Fujikawa S, Nakamura H, Baba K (1979): Marshall-Smith syndrome with large bifrontal diameter, broad distal femora, camptodactyly, and without broad middle phalanges. J Pediatr 94:93-95.
14. Trabelsi M, Ben Hariz M, Monastiri K, Taktak M, Bennaceur B (1990): Weaver's syndrome. A propos of a new case. Ann Pediatr 37:327-330.
15. Weaver DD, Graham CB, Thomas IT, Smith DT (1974): A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly. J Pediatr 84:547-552.
16. Weisswichert PH, Knapp G, Willich E (1981): Accelerated bone maturation syndrome of the Weaver type. Eur J Pediatr 137:329-333.