Literature DB >> 3290490

Complete absence of external genitalia in limb-body wall complex: two cases.

A Litwin1, P Merlob, M Grunebaum.   

Abstract

Two neonates with limb-body wall complex (LBWC) and complete absence of the external genitalia are presented. Our patients are the sixth and seventh cases of complete absence of the external genitalia recorded in English publications and the first two cases associated with LBWC. The incidence of complete absence of the external genitalia in our newborn population during a period of 12 years (1975 to 1986) was one case per 13 420 births.

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Mesh：

Year:  1988        PMID： 3290490      PMCID： PMC1050462          DOI： 10.1136/jmg.25.5.340

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


  10 in total

1.  Body wall defects with reduction limb anomalies: a report of fifteen cases.

Authors:  R A Pagon; T D Stephens; B C McGillivray; J R Siebert; V J Wright; L L Hsu; B J Poland; I Emanuel; J G Hall
Journal:  Birth Defects Orig Artic Ser       Date:  1979

2.  Congenital absence of the external genitals; persistent primitive cloaca.

Authors:  J D KIRSHBAUM
Journal:  J Pediatr       Date:  1950-07       Impact factor: 4.406

3.  Persistent cloaca with no urethral, genital, or anal openings.

Authors:  N Fitch; B Artinian
Journal:  Teratology       Date:  1973-12

4.  A syndrome of multiple congenital malformations with absent external genitalia, urethral and anal openings in one of twins.

Authors:  D Sinniah; J K Manuel
Journal:  Singapore Med J       Date:  1980-04       Impact factor: 1.858

5.  Structural defects as a consequence of early intrauterine constraint: limb deficiency, polydactyly, and body wall defects.

Authors:  M E Miller
Journal:  Semin Perinatol       Date:  1983-10       Impact factor: 3.300

6.  Persistent cloaca with absent penis and anal atresia in one of identical twins.

Authors:  H Koffler; J M Aase; L A Papile; R W Coen
Journal:  J Pediatr       Date:  1978-11       Impact factor: 4.406

7.  Fetal vascular disruptions: mechanisms and some resulting birth defects.

Authors:  M I Van Allen
Journal:  Pediatr Ann       Date:  1981-06       Impact factor: 1.132

8.  Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship.

Authors:  A C Casamassima; C C Morton; W E Nance; M Kodroff; R Caldwell; T Kelly; B Wolf
Journal:  Am J Med Genet       Date:  1981

9.  The VATER association. Analysis of 46 patients.

Authors:  D D Weaver; C L Mapstone; P L Yu
Journal:  Am J Dis Child       Date:  1986-03

10.  Limb-body wall complex: in utero sonographic diagnosis of a complicated fetal malformation.

Authors:  R M Patten; M Van Allen; L A Mack; D Wilson; D Nyberg; J Hirsch; T Viamont
Journal:  AJR Am J Roentgenol       Date:  1986-05       Impact factor: 3.959
  10 in total
  3 in total

1.  Human homologue for the mouse mutant disorganisation: does it exist?

Authors:  K K Naguib; M S Hamoud; E S Khalil; M Y el-Khalifa
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

2.  Rare Presentation of Limb-Body Wall Complex in a Neonate: Case Report and Review of Literature.

Authors:  Omoloro Adeleke; Farrukh Gill; Ramesh Krishnan
Journal:  AJP Rep       Date:  2022-03-07

3.  Anatomy-based diagnostic criteria for complex body wall anomalies (CBWA).

Authors:  Nieves Martín-Alguacil
Journal:  Mol Genet Genomic Med       Date:  2020-08-27       Impact factor: 2.183
  3 in total

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