Binder syndrome: a phenotype rather than a definitive diagnosis?

Mazzone, Eleonora; Sanchez, Teresa Cos; Persico, Nicola; Cannie, M. M.; Jani, J.

doi:10.1002/uog.19198

Cited by 7 publications

(3 citation statements)

References 5 publications

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“…Genetic disorders associated with vitamin K deficiency include autosomal recessive vitamin K epoxide reductase deficiency, X-linked recessive form of CDP, and Xp22.3 deletion. [8][9][10][11][12] Sheffield et al 13 suggested that the BP represents a mild form of CDP and reported 103 cases of CDP in a 20-year examination period. However, in our case series, we could not identify any CDP cases.…”

Section: Discussionmentioning

confidence: 99%

Binder Phenotype—Prenatal Diagnosis, Management, and Postnatal Outcome: Insights from a Case Series and Updated Review of the Literature

Sabu,

Shenoy,

2024

Journal of Fetal Medicine

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Binder phenotype (BP) or maxillonasal dysplasia is a developmental disorder of the anterior part of the maxilla and nasal complex and is characterized by a short nose with a flat nasal bridge, short columella, acute nasolabial angle, perialar flatness, convex upper lip, and tendency to a class III malocclusion. The etiology of BP is heterogeneous with diverse features and outcomes. The ultrasound features of BP are midfacial hypoplasia with verticalized nasal bones, short columella with flattened tip and alar wings, and the nasofrontal angle measuring >140 degrees. In this case series, we present seven cases of BP detected antenatally, their varied etiology, management, and outcomes with a 2-year follow-up. We conclude that the diagnosis of facial dysmorphisms, such as BP, brings a lot of apprehension and agony in the parents amounting to multiple tests and counseling sessions. Physiognomy which is the normal familial appearance should be considered before concluding whether the observed feature is normal or pathological. Accurate diagnosis, adequate testing, and personalized counseling will help in the prevention of needless termination of pregnancies and ensure an optimal perinatal outcome.

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Section: Discussionmentioning

confidence: 99%

Binder Phenotype—Prenatal Diagnosis, Management, and Postnatal Outcome: Insights from a Case Series and Updated Review of the Literature

Sabu,

Shenoy,

2024

Journal of Fetal Medicine

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“…The etiology is still unclear because it can also occur sporadically. It has been linked to use of coumarin-based anticoagulants during pregnancy and systemic lupus erythematosus ( Mazzone et al, 2019 ). The essential features of Binder's syndrome include a short nose, with a flattened nasal bridge, atrophy of the nasal mucosa, and aplastic frontal sinus and a tendency to develop Class III malocclusion and reverse overbite ( Heo and Jin, 2018 ).…”

Section: Syndromic Lesions Associated With Craniofacial Complexmentioning

confidence: 99%

Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives

Akintoye,

Adisa,

Okwuosa

et al. 2024

Bone Reports

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“…1 The current understanding is that BS is not a disease but rather a phenotype with several causes. 2 BS is characterized by a shortened nose with a depressed nasal bridge, flat facies, and a convex upper lip. Malocclusion, underdevelopment of frontal sinus (FS), and anomalies of the cervical spine may be present.…”

Section: Introductionmentioning

confidence: 99%

Orofacial Deformities in 3 Related Rhesus Monkeys (Macaca mulatta) Resembling Human Binder’s Syndrome

Goldschmidt

Bouzon

Meireles

et al. 2022

The Cleft Palate Craniofacial Journal

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Binder’s syndrome is a rare congenital deformity characterized by midface hypoplasia, particularly around the nasomaxillary area. Genetic etiology or developmental failure caused by prenatal exposure to teratological agents has been considered. In this article, we present 3 related rhesus monkeys born with orofacial deformities similar to those found in infants with the Binder phenotype. For the first time, a primate biomodel for this condition is presented. The clinical description and association with management and environmental factors are discussed. These findings reinforce the knowledge about the relationship between possible vitamin K metabolism interference and Binder’s syndrome.

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Binder syndrome: a phenotype rather than a definitive diagnosis?

Cited by 7 publications

References 5 publications

Binder Phenotype—Prenatal Diagnosis, Management, and Postnatal Outcome: Insights from a Case Series and Updated Review of the Literature

Binder Phenotype—Prenatal Diagnosis, Management, and Postnatal Outcome: Insights from a Case Series and Updated Review of the Literature

Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives

Orofacial Deformities in 3 Related Rhesus Monkeys (Macaca mulatta) Resembling Human Binder’s Syndrome

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