Literature DB >> 34221170

Fetal Skeletal Dysplasias that Involve the Face: Binder Syndrome and Nager Syndrome.

Alina Veduta1, Simona Duta1, Anca Marina Ciobanu1, Radu Botezatu1, Nicolae Gica1, Gheorghe Peltecu1, Anca Maria Panaitescu1.   

Abstract

Binder syndrome and Nager syndrome are part of the spectrum of skeletal dysplasias. Although exceedingly rare, both syndromes are amenable to prenatal diagnosis because they present with features that can be detected by prenatal ultrasound. Genetic prenatal diagnosis is sometimes possible but remains difficult if the etiology of the disease is not homogenous. In cases of severe skeletal dysplasias, the prognosis is unfavorable irrespectively of the genetic defect. In cases with only mild structural anomalies, prenatal counselling is especially difficult. We present cases of Binder syndrome and Nager syndrome diagnosed by us prenatally. We elaborate on the etiology of Binder syndrome and discuss the current classification of facial dysostoses.

Entities:  

Year:  2021        PMID: 34221170      PMCID: PMC8224714          DOI: 10.26574/maedica.2020.16.1.140

Source DB:  PubMed          Journal:  Maedica (Bucur)        ISSN: 1841-9038


  22 in total

1.  The prenatal diagnosis of Binder syndrome before 24 weeks of gestation: case report.

Authors:  K Cook; F Prefumo; F Presti; T Homfray; S Campbell
Journal:  Ultrasound Obstet Gynecol       Date:  2000-11       Impact factor: 7.299

2.  International nosology and classification of constitutional disorders of bone (2001).

Authors:  Christine M Hall
Journal:  Am J Med Genet       Date:  2002-11-15

3.  Cleft lip and palate mortality study.

Authors:  M Mackeprang; S Hay
Journal:  Cleft Palate J       Date:  1972-01

4.  Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata.

Authors:  Anna R Blask; Eva I Rubio; Kimberly A Chapman; Anne K Lawrence; Dorothy I Bulas
Journal:  Pediatr Radiol       Date:  2018-03-23

5.  Binder phenotype: associated findings and etiologic mechanisms.

Authors:  Kim M Keppler-Noreuil; Tanner J Wenzel
Journal:  J Craniofac Surg       Date:  2010-09       Impact factor: 1.046

6.  Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

Authors:  Francois P Bernier; Oana Caluseriu; Sarah Ng; Jeremy Schwartzentruber; Kati J Buckingham; A Micheil Innes; Ethylin Wang Jabs; Jeffrey W Innis; Jane L Schuette; Jerome L Gorski; Peter H Byers; Gregor Andelfinger; Victoria Siu; Julie Lauzon; Bridget A Fernandez; Margaret McMillin; Richard H Scott; Hilary Racher; Jacek Majewski; Deborah A Nickerson; Jay Shendure; Michael J Bamshad; Jillian S Parboosingh
Journal:  Am J Hum Genet       Date:  2012-04-26       Impact factor: 11.025

7.  Maxillonasal dysplasia (Binder's syndrome) and chondrodysplasia punctata.

Authors:  L J Sheffield; J L Halliday; F Jensen
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

Review 8.  Common craniofacial anomalies: the facial dysostoses.

Authors:  Jeremy A Hunt; P Craig Hobar
Journal:  Plast Reconstr Surg       Date:  2002-12       Impact factor: 4.730

9.  Maxillonasal dysplasia (Binder's syndrome): a critical review and case study.

Authors:  B B Horswell; A D Holmes; J S Barnett; B A Levant
Journal:  J Oral Maxillofac Surg       Date:  1987-02       Impact factor: 1.895

10.  Nosology and classification of genetic skeletal disorders: 2019 revision.

Authors:  Geert R Mortier; Daniel H Cohn; Valerie Cormier-Daire; Christine Hall; Deborah Krakow; Stefan Mundlos; Gen Nishimura; Stephen Robertson; Luca Sangiorgi; Ravi Savarirayan; David Sillence; Andrea Superti-Furga; Sheila Unger; Matthew L Warman
Journal:  Am J Med Genet A       Date:  2019-10-21       Impact factor: 2.802

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