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Prenatal Diagnosis of Binder Phenotype, Naso-Maxillar Hypoplasia

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31 dic 2020
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Facial dysmorphism is a common diagnosis which represents a broad spectrum of aetiologies with different outcomes spreading from normal outcome to foetal demise or new-borns with multiple malformations. Prenatal diagnosis can be difficult, making counselling a challenging task even in experienced hands. This paper aims to present an unusual case of facial dysmorphism (Binder phenotype) which resulted in a normal pregnancy. However, throughout the pregnancy, future parents experienced excruciating anxiety, which required multiple prenatal counselling appointments. We believe that in case of a Binder phenotype, genetic testing, multiple scanning appointments and extensive discussion with future parents are vital in the prevention of an unneeded ending of a pregnancy.

Lingua:
Inglese
Frequenza di pubblicazione:
4 volte all'anno
Argomenti della rivista:
Medicina, Medicina clinica, Medicina clinica, altro