Abstract
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.
Full text
PDFImages in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Amir N., Gross-Kieselstein E., Hirsch H. J., Lax E., Silverberg-Shalev R. Weaver-Smith syndrome. A case study with long-term follow-up. Am J Dis Child. 1984 Dec;138(12):1113–1117. [PubMed] [Google Scholar]
- Bosch-Banyeras J. M., Salcedo S., Lucaya J., Laverde R., Boronat M., Marti-Henneberg C. Acceleration du developpement postnatal, hypertonie elargissement des phalanges medianes et des metaphyses distales du femur, facies particulier: s'agit-il d'un syndrome de Weaver? Arch Fr Pediatr. 1978 Feb;35(2):177–183. [PubMed] [Google Scholar]
- Fitch N. The syndromes of Marshall and Weaver. J Med Genet. 1980 Jun;17(3):174–178. doi: 10.1136/jmg.17.3.174. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Gemme G., Bonioli E., Ruffa G., Lagorio V. The Weaver-Smith syndrome. J Pediatr. 1980 Dec;97(6):962–964. doi: 10.1016/s0022-3476(80)80436-7. [DOI] [PubMed] [Google Scholar]
- Jalaguier J., Montoya F., Germain M., Bonnet H. Avance de la maturation osseuse et syndrome dysmorphique chez deux germains (Syndrome de Marshall-Weaver). J Genet Hum. 1983 Dec;31 (Suppl 5):385–395. [PubMed] [Google Scholar]
- Majewski F., Ranke M., Kemperdick H., Schmidt E. The Weaver syndrome: a rare type of primordial overgrowth. Eur J Pediatr. 1981 Nov;137(3):277–282. doi: 10.1007/BF00443257. [DOI] [PubMed] [Google Scholar]
- Meinecke P., Schaefer E., Engelbrecht R. The Weaver syndrome in a girl. Eur J Pediatr. 1983 Oct;141(1):58–59. doi: 10.1007/BF00445673. [DOI] [PubMed] [Google Scholar]
- Roussounis S. H., Crawford M. J. Siblings with Weaver syndrome. J Pediatr. 1983 Apr;102(4):595–597. doi: 10.1016/s0022-3476(83)80195-4. [DOI] [PubMed] [Google Scholar]
- Weaver D. D., Graham C. B., Thomas I. T., Smith D. W. A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly. J Pediatr. 1974 Apr;84(4):547–552. doi: 10.1016/s0022-3476(74)80675-x. [DOI] [PubMed] [Google Scholar]
- Weisswichert P. H., Knapp G., Willich E. Accelerated bone maturation syndrome of the Weaver type. Eur J Pediatr. 1981 Nov;137(3):329–333. doi: 10.1007/BF00443267. [DOI] [PubMed] [Google Scholar]