Literature DB >> 7891380

Anophthalmia with cleft palate and micrognathia: a new syndrome?

S R Phadke1, A K Sharma, S S Agarwal.   

Abstract

A 5 day old male with bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes is described. There have been two case reports with similar clinical manifestations but associated with interstitial deletion of 14q (q22q23). We propose that either our patient represents a new syndrome or has a microdeletion which could not be detected on routine cytogenetics. High quality cytogenetics and FISH may show microdeletions in patients presenting with this clinical picture and normal chromosomes.

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Mesh：

Year:  1994        PMID： 7891380      PMCID： PMC1016699          DOI： 10.1136/jmg.31.12.960

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


  4 in total

1.  Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities.

Authors:  C P Bennett; D R Betts; M J Seller
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

Review 2.  The Lenz microphthalmia syndrome.

Authors:  E I Traboulsi; W Lenz; M Gonzales-Ramos; J Siegel; W G Macrae; I H Maumenee
Journal:  Am J Ophthalmol       Date:  1988-01-15       Impact factor: 5.258

3.  Lenz microphthalmia--a case report.

Authors:  M Baraitser; R M Winter; D S Taylor
Journal:  Clin Genet       Date:  1982-08       Impact factor: 4.438

Review 4.  A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities.

Authors:  J Elliott; E L Maltby; B Reynolds
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318
  4 in total
  4 in total

1.  Anophthalmia with cleft palate and micrognathia: a new syndrome or an unusual presentation of Rubinstein-Taybi syndrome?

Authors:  J P Fryns
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

2.  Long-term outcomes after cosmetic customized prostheses and dermis fat graft in congenital anophthalmia: a retrospective multicentre study.

Authors:  Alessandra Claudia Modugno; Antonio Giordano Resti; Giacomilde Mazzone; Caterina Moretti; Maria Rosa Terreni; Giorgio Albanese; Gustavo Savino; Gabriela Grimaldi; Richard Collin
Journal:  Eye (Lond)       Date:  2018-07-24       Impact factor: 3.775

3.  Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy.

Authors:  Pavlina Capkova; Alena Santava; Ivana Markova; Andrea Stefekova; Josef Srovnal; Katerina Staffova; Veronika Durdová
Journal:  Mol Cytogenet       Date:  2017-12-28       Impact factor: 2.009

4.  Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.

Authors:  Preeti Bakrania; Maria Efthymiou; Johannes C Klein; Alison Salt; David J Bunyan; Alex Wyatt; Chris P Ponting; Angela Martin; Steven Williams; Victoria Lindley; Joanne Gilmore; Marie Restori; Anthony G Robson; Magella M Neveu; Graham E Holder; J Richard O Collin; David O Robinson; Peter Farndon; Heidi Johansen-Berg; Dianne Gerrelli; Nicola K Ragge
Journal:  Am J Hum Genet       Date:  2008-01-31       Impact factor: 11.025
  4 in total

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