Literature DB >> 3585940

A girl with the Weaver syndrome.

E M Thompson, S Hill, J V Leonard, M E Pembrey.   

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.

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Year:  1987        PMID: 3585940      PMCID: PMC1050003          DOI: 10.1136/jmg.24.4.232

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  10 in total

1.  A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly.

Authors:  D D Weaver; C B Graham; I T Thomas; D W Smith
Journal:  J Pediatr       Date:  1974-04       Impact factor: 4.406

2.  [Acceleration of bone maturation and dysmorphic syndrome in 2 siblings (Marshall-Weaver syndrome)].

Authors:  J Jalaguier; F Montoya; M Germain; H Bonnet
Journal:  J Genet Hum       Date:  1983-12

3.  Siblings with Weaver syndrome.

Authors:  S H Roussounis; M J Crawford
Journal:  J Pediatr       Date:  1983-04       Impact factor: 4.406

4.  [Acceleration of postnatal development, hypertony, enlargement of the middle phalanges and of the distal metaphyses of the femur, peculiar facies: a case of Weaver's syndrome?].

Authors:  J M Bosch-Banyeras; S Salcedo; J Lucaya; R Laverde; M Boronat; C Marti-Henneberg
Journal:  Arch Fr Pediatr       Date:  1978-02

5.  The Weaver syndrome: a rare type of primordial overgrowth.

Authors:  F Majewski; M Ranke; H Kemperdick; E Schmidt
Journal:  Eur J Pediatr       Date:  1981-11       Impact factor: 3.183

6.  Accelerated bone maturation syndrome of the Weaver type.

Authors:  P H Weisswichert; G Knapp; E Willich
Journal:  Eur J Pediatr       Date:  1981-11       Impact factor: 3.183

7.  The Weaver-Smith syndrome.

Authors:  G Gemme; E Bonioli; G Ruffa; V Lagorio
Journal:  J Pediatr       Date:  1980-12       Impact factor: 4.406

8.  The syndromes of Marshall and Weaver.

Authors:  N Fitch
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318

9.  The Weaver syndrome in a girl.

Authors:  P Meinecke; E Schaefer; R Engelbrecht
Journal:  Eur J Pediatr       Date:  1983-10       Impact factor: 3.183

10.  Weaver-Smith syndrome. A case study with long-term follow-up.

Authors:  N Amir; E Gross-Kieselstein; H J Hirsch; E Lax; R Silverberg-Shalev
Journal:  Am J Dis Child       Date:  1984-12
  10 in total
  4 in total

1.  Weaver syndrome.

Authors:  T R Cole; N R Dennis; H E Hughes
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

2.  Weaver syndrome associated with bilateral congenital hip and unilateral subtalar dislocation.

Authors:  P Mikalef; T Beslikas; I Gigis; I Bisbinas; T Papageorgiou; I Christoforides
Journal:  Hippokratia       Date:  2010-07       Impact factor: 0.471

3.  Precocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3.

Authors:  Keisuke Watanabe; Atsuko Noguchi; Ikuko Takahashi; Mamiko Yamada; Hisato Suzuki; Toshiki Takenouchi; Kenjiro Kosaki; Tsutomu Takahashi
Journal:  Hum Genome Var       Date:  2022-06-09

4.  Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie.

Authors:  K Zerres; S Rudnik-Schöneborn; F Deget
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318

  4 in total

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