Document Detail

Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature.
MedLine Citation:
PMID:  19156647     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: Prenatal Binder profile is a well known clinical phenotype, defined by a flat profile without nasal eminence, contrasting with nasal bones of normal length. Binder profile results of a hypoplasia of the nasal pyramid (sometimes referred to as maxillonasal dysplasia). We report 8 fetuses prenatally diagnosed as Binder phenotype, and discuss their postnatal diagnoses. METHODS: Ultrasonographic detailed measurements in 2D and 3D were done on the 8 fetuses with Binder profile, and were compared with postnatal phenotype. RESULTS: All fetuses have an association of verticalized nasal bones, abnormal convexity of the maxilla, and some degree of chondrodysplasia punctata. The final diagnoses included fetal warfarin syndrome (one patient), infantile sialic acid storage (one patient), probable Keutel syndrome (one patient), and five unclassifiable types of chondrodysplasia punctata. CONCLUSION: This series demonstrates the heterogeneity of prenatally diagnosed Binder phenotype, and the presence of chondrodysplasia punctata in all cases. An anomaly of vitamin K metabolism, possibly due to environmental factors, is suspected in these mild chondrodysplasia punctata. We recommend considering early prophylactic vitamin K supplementation in every suspected acquired vitamin K deficiency including incoercible vomiting of the pregnancy.
J M Levaillant; D Moeglin; K Zouiten; M Bucourt; L Burglen; V Soupre; C Baumann; M L Jaquemont; R Touraine; A Picard; E Vuillard; N Belarbi; J F Oury; A Verloes; M P Vazquez; P Labrune; A L Delezoide; M Gérard-Blanluet
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  29     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2009 Feb 
Date Detail:
Created Date:  2009-02-05     Completed Date:  2009-05-05     Revised Date:  2009-07-17    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  140-50     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2009 John Wiley & Sons, Ltd.
Prenatal Diagnosis Unit, APHP Antoine Béclère University Hospital, Clamart, France.
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MeSH Terms
Chondrodysplasia Punctata / ultrasonography*
Infant, Newborn
Maxillofacial Abnormalities / ultrasonography*
Retrospective Studies
Ultrasonography, Prenatal / methods*

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