Literature DB >> 1605680

Lethal Pena-Shokeir 1 syndrome in three male siblings.

T Gyr1, M Katz, H J Altermatt, S Braga, P Duerig, C Koenig, H Schneider.   

Abstract

A consanguineous family with no living children and three male siblings with Pena-Shokeir 1 syndrome is described. Two children died antepartum and the third shortly after delivery. The importance of early prenatal diagnosis, appropriate counseling and thorough evaluation of the neuromuscular system is discussed.

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Year:  1992        PMID： 1605680     DOI： 10.1007/bf02718378

Source DB:  PubMed          Journal:  Arch Gynecol Obstet        ISSN： 0932-0067            Impact factor:   2.344


  15 in total

1.  Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition.

Authors:  S D Pena; M H Shokeir
Journal:  J Pediatr       Date:  1974-09       Impact factor: 4.406

Review 2.  Analysis of Pena Shokeir phenotype.

Authors:  J G Hall
Journal:  Am J Med Genet       Date:  1986-09

3.  The Pena-Shokeir syndrome: report of nine Dutch cases.

Authors:  D Lindhout; G Hageman; F A Beemer; P F Ippel; L Breslau-Siderius; J Willemse
Journal:  Am J Med Genet       Date:  1985-08

4.  Ultrasonic ratio of fetal thoracic to abdominal circumference: an association with fetal pulmonary hypoplasia.

Authors:  A Johnson; N A Callan; V K Bhutani; G H Colmorgen; S Weiner; R J Bolognese
Journal:  Am J Obstet Gynecol       Date:  1987-09       Impact factor: 8.661

5.  The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome.

Authors:  H Chen; B Blumberg; L Immken; R Lachman; D Rightmire; M Fowler; R Bachman; F A Beemer
Journal:  Am J Med Genet       Date:  1983-10

6.  Fetal akinesia deformation sequence: an animal model.

Authors:  A C Moessinger
Journal:  Pediatrics       Date:  1983-12       Impact factor: 7.124

7.  Syndrome of ankylosis, facial anomalies, and pulmonary hypoplasia.

Authors:  H H Punnett; M L Kistenmacher; M Valdes-Dapena; R T Ellison
Journal:  J Pediatr       Date:  1974-09       Impact factor: 4.406

8.  Pulmonary hypoplasia, multiple ankyloses, and camptodactyly: one syndrome or some related forms?

Authors:  G I Lazjuk; E D Cherstvoy; I W Lurie; M K Nedzved
Journal:  Helv Paediatr Acta       Date:  1978-04

9.  Separating Pena-Shokeir I syndrome from the "arthrogryposis basket".

Authors:  C S Houston; M H Shokeir
Journal:  J Can Assoc Radiol       Date:  1981-12

10.  A lethal autosomal recessive syndrome of multiple congenital contractures.

Authors:  R Herva; J Leisti; P Kirkinen; U Seppänen
Journal:  Am J Med Genet       Date:  1985-03
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  1 in total

1.  Lethal congenital contracture syndrome: further delineation and genetic aspects.

Authors:  K Vuopala; R Herva
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318
  1 in total

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