Literature DB >> 3950937

The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.

D Donnai, I D Young, W G Owen, S A Clark, P F Miller, W F Knox.   

Abstract

Three cases are reported of a lethal multiple congenital anomaly syndrome. The infants had moderate limb shortening, joint contractures, polydactyly, and the two with male karyotypes had female external genitalia. Internal anomalies included unilobular lungs, hypoplasia of the anterior portion of the tongue, and renal hypoplasia.

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Mesh：

Year:  1986        PMID： 3950937      PMCID： PMC1049544          DOI： 10.1136/jmg.23.1.64

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


  17 in total

1.  Implications of agenesis of the spleen on the pathogenesis of conotruncus anomalies in childhood; an analysis of the heart malformations in the splenic agenesis syndrome, with fourteen new cases.

Authors:  B I IVEMARK
Journal:  Acta Paediatr Suppl       Date:  1955-11

2.  A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities.

Authors:  J P Fryns; F Moerman; P Goddeeris; C Bossuyt; H Van den Berghe
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

3.  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

4.  Micrognathia, polydactyly, and cleft palate.

Authors:  R B Lowry; J R Miller; J R MacLean
Journal:  J Pediatr       Date:  1968-06       Impact factor: 4.406

5.  Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome.

Authors:  R B Lowry
Journal:  Am J Med Genet       Date:  1983-03

6.  Intestinal aganglionosis in the Smith-Lemli-Opitz syndrome.

Authors:  J Zizka; J Maresová; Z Kerekes; Z Nozicka; V Jüttnerová; P Balícek
Journal:  Acta Paediatr Scand       Date:  1983-01

7.  Brief clinical report: familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith-Lemli-Opitz (RSH) syndrome.

Authors:  H G Kohler
Journal:  Am J Med Genet       Date:  1983-03

8.  Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome.

Authors:  S D Pena; M H Shokeir
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

9.  Further delineation of the C (trigonocephaly) syndrome.

Authors:  R M Antley; D S Hwang; W Theopold; R J Gorlin; T Steeper; D Pitt; D M Danks; E McPherson; H Bartels; H R Wiedemann; J M Opitz
Journal:  Am J Med Genet       Date:  1981

10.  Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations.

Authors:  J G Hall; P D Pallister; S K Clarren; J B Beckwith; F W Wiglesworth; F C Fraser; S Cho; P J Benke; S D Reed
Journal:  Am J Med Genet       Date:  1980
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  10 in total

Review 1.  Malformation syndromes caused by disorders of cholesterol synthesis.

Authors:  Forbes D Porter; Gail E Herman
Journal:  J Lipid Res       Date:  2010-10-07       Impact factor: 5.922

2.  Blocking cholesterol synthesis impairs acquisition of the classically conditioned eyeblink response.

Authors:  W T O'Brien; G Xu; G S Tint; G Salen; R J Servatius
Journal:  Integr Physiol Behav Sci       Date:  2000 Apr-Jun

3.  Lethal femoral-facial syndrome: a case with unusual manifestations.

Authors:  Y Gillerot; C Fourneau; T Willems; L Van Maldergem
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

Review 4.  The Smith-Lemli-Opitz syndrome.

Authors:  R I Kelley; R C Hennekam
Journal:  J Med Genet       Date:  2000-05       Impact factor: 6.318

5.  Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals?

Authors:  P A McKeever; I D Young
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

Review 6.  Control of mammalian kidney development by the Hedgehog signaling pathway.

Authors:  Jason E Cain; Norman D Rosenblum
Journal:  Pediatr Nephrol       Date:  2010-12-15       Impact factor: 3.714

7.  Adrenal function in Smith-Lemli-Opitz syndrome.

Authors:  Simona E Bianconi; Sandra K Conley; Meg F Keil; Ninet Sinaii; Kristina I Rother; Forbes D Porter; Constantine A Stratakis
Journal:  Am J Med Genet A       Date:  2011-10-11       Impact factor: 2.802

8.  Smith-Lemli-Opitz syndrome type II: report of a case with additional radiographic findings.

Authors:  T E Herman; M J Siegel; B C Lee; S B Dowton
Journal:  Pediatr Radiol       Date:  1993

9.  Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Authors:  H R Waterham; F A Wijburg; R C Hennekam; P Vreken; B T Poll-The; L Dorland; M Duran; P E Jira; J A Smeitink; R A Wevers; R J Wanders
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

Review 10.  Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.

Authors:  M L Merrer; M L Briard; S Girard; N Mulliez; C Moraine; M C Imbert
Journal:  J Med Genet       Date:  1988-02       Impact factor: 6.318
  10 in total

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