A new report of mesomelic camptomelia, polydactyly and Dandy–Walker complex in siblings

Planas, Sílvia; Peiró, R.; Rubio, R.; Villanueva, Ricard Ripoll i; Seres, András; Carreras, Ramón

doi:10.1002/pd.601

Cited by 4 publications

(1 citation statement)

References 10 publications

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“…Many congenital malformations associated to PAP are reported in literature ( 6 – 12 ). There are no reported guidelines or protocols to investigate these malformation syndromes.…”

Section: Introductionmentioning

confidence: 99%

Review of Literature: Genes Related to Postaxial Polydactyly

Verma

El-Harouni²

2015

Front. Pediatr.

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Background: Postaxial polydactyly (PAP) is one of the commonest congenital malformations and usually is associated to several syndromes. There is no primary investigational strategy for PAP cases with single gene disorder in literature. PAP cases with single gene disorder can be classified according to common pathways and molecular basis. Molecular classification may help in diagnostic approach.Materials and Methods: All single gene disorders associated with PAP reported on PubMed and OMIM are analyzed and classified according to molecular basis.Results: Majority of genes related to cilia structure and functions are associated with PAP, so we classified them as ciliopathies and non-ciliopathies groups. Genes related to Shh–Gli3 pathway was the commonest group in non-ciliopathies.Conclusion: Genes related to cilia are most commonly related to PAP due to their indirect relationship to Shh–Gli3 signaling pathway. Initially, PAP may be the only clinical finding with ciliopathies so those cases need follow up. Proper diagnosis is helpful for management and genetic counseling. Molecular approach may help to define pleiotropy.

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“…Many congenital malformations associated to PAP are reported in literature ( 6 – 12 ). There are no reported guidelines or protocols to investigate these malformation syndromes.…”

Section: Introductionmentioning

confidence: 99%

Review of Literature: Genes Related to Postaxial Polydactyly

Verma

El-Harouni²

2015

Front. Pediatr.

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Current awareness in prenatal diagnosis

2003

Prenatal Diagnosis

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In order to keep subscribers up‐to‐date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre‐implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted

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