Literature DB >> 16936370

Hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes.

Murat Cakir1, Ilke Mungan, Melike Makuloglu, Aysenur Okten.   

Abstract

We present a male infant with hydrocephalus, cleft lip/palate, micrognathia, club foot, laryngeal stenosis and ostium secundum type atrial septal defect. The karyotype was 46 XY. The combination of malformations observed overlaps with the characteristic findings of hydrolethalus syndrome, Meckel syndrome, Smith-Lemli-Opitz syndrome and pseudotrisomy 13. We discussed the differential diagnosis of the case.

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Mesh：

Year:  2006        PMID： 16936370     DOI： 10.1007/BF02898455

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   5.319


  10 in total

1.  Hydrolethalus (Salonen-Herva-Norio) syndrome: further clinicopathological delineation.

Authors:  K Anyane-Yeboa; M Collins; W Kupsky; J Maidman; J Malin; M Yeh
Journal:  Am J Med Genet       Date:  1987-04

2.  The pathology of trisomy 13 syndrome. A study of 12 cases.

Authors:  P Moerman; J P Fryns; K van der Steen; A Kleczkowska; J Lauweryns
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

3.  Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome.

Authors:  H Bachman; R D Clark; W Salahi
Journal:  J Med Genet       Date:  1990-01       Impact factor: 6.318

4.  First-trimester diagnosis of hydrolethalus syndrome.

Authors:  P Ammälä; R Salonen
Journal:  Ultrasound Obstet Gynecol       Date:  1995-01       Impact factor: 7.299

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.  Hydrolethalus: a midline malformation syndrome with optic nerve coloboma and hypoplasia.

Authors:  T Kivelä; R Salonen; A Paetau
Journal:  Acta Neuropathol       Date:  1996       Impact factor: 17.088

Review 7.  Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome.

Authors:  A Verloes; Y Gillerot; J P Langhendries; J P Fryns; L Koulischer
Journal:  Am J Med Genet       Date:  1992-07-01

8.  Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25.

Authors:  I Visapää; R Salonen; T Varilo; P Paavola; L Peltonen
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

Review 9.  Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

Authors:  A Verloes; S Aymé; D Gambarelli; M Gonzales; M Le Merrer; N Mulliez; N Philip; J Roume
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

10.  The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.

Authors:  R Salonen; R Herva; R Norio
Journal:  Clin Genet       Date:  1981-05       Impact factor: 4.438
  10 in total
  2 in total

Review 1.  Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.

Authors:  Sophia M Bous; Benjamin D Solomon; Luitgard Graul-Neumann; Heidemarie Neitzel; Emily E Hardisty; Maximilian Muenke
Journal:  Clin Dysmorphol       Date:  2012-10       Impact factor: 0.816

2.  Anesthetic Management in Corpus Callosum Agenesis.

Authors:  Ebru Tarıkçı Kılıç; Mehmet Erdem Akçay; Mehmet Salim Akdemir; Egemen Atağ; Onur Gürsu
Journal:  Anesth Essays Res       Date:  2018 Jul-Sep
  2 in total

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