Literature DB >> 1150242

Hereditary defect of the sacrum.

B Say, J G Coldwell.   

Abstract

A family in which both the mother and two of her daughters had partial agenesis of the sacrum and coccygeal bones is presented. Further studies demonstrate a neurogenic bladder and a presacral mass in the 4-year-old girl who had severe urinary incontinence. The mode of inheritance in this entity may be x-linked dominant as has been suggested. Previously by Cohn and Bay-Nielsen (1969). The gene may act as a lethal factors in hemizygous males. A brief review of the literature showed a remarkable paucity of reports on the hereditary aspects of sacrococcygeal defects in man. It is concluded that this may be misleading, since the true incidence of hereditary sacroccygeal deformities can not possibly be established until family members of the probands are also examined radiologically.

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Mesh:

Year:  1975        PMID: 1150242     DOI: 10.1007/bf00278350

Source DB:  PubMed          Journal:  Humangenetik        ISSN: 0018-7348


  5 in total

1.  SACROCOCCYGEAL AGENESIS IN SWISS MICE.

Authors:  F L FRYE; L Z MCFARLAND; J B ENRIGHT
Journal:  Cornell Vet       Date:  1964-10

2.  Sacral agenesis.

Authors:  J V Banta; O Nichols
Journal:  J Bone Joint Surg Am       Date:  1969-06       Impact factor: 5.284

3.  Hereditary defect of the sacrum and coccyx with anterior sacral meningocele.

Authors:  J Cohn; E Bay-Nielsen
Journal:  Acta Paediatr Scand       Date:  1969-05

4.  Sacral agenesis in the infant of a gestational diabetic. Report of a case.

Authors:  G A Fields; R H Schwarz; H O Dickens; W Tunnessen
Journal:  Obstet Gynecol       Date:  1968-12       Impact factor: 7.661

5.  [Osseous dystocia due to sacrococcygeal agenesis. Familial case with associated polylethality of malformative origin].

Authors:  E Rochet; G Gacon; J M Robert; C Grunthaler
Journal:  Gynecol Obstet (Paris)       Date:  1966 Jan-Mar
  5 in total
  4 in total

1.  Homeoboxes and field defects.

Authors:  J S Bamforth
Journal:  Am J Hum Genet       Date:  1993-11       Impact factor: 11.025

Review 2.  Autosomal dominant sacral agenesis: Currarino syndrome.

Authors:  S A Lynch; Y Wang; T Strachan; J Burn; S Lindsay
Journal:  J Med Genet       Date:  2000-08       Impact factor: 6.318

3.  Anorectal malformations with sacral bony abnormalities.

Authors:  S Nour; D Kumar; J A Dickson
Journal:  Arch Dis Child       Date:  1989-11       Impact factor: 3.791

4.  Familial caudal regression anomalad and maternal diabetes.

Authors:  J M Stewart; S Stoll
Journal:  J Med Genet       Date:  1979-02       Impact factor: 6.318

  4 in total

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