Prenatal Diagnosis of Frontonasal Dysplasia Associated With Bilateral Periventricular Nodular Heterotopia

Abstract

Frontonasal dysplasia is an etiologically heterogeneous development alteration including a set of anomalies affecting the eyes, forehead, and nose as a result of a malformation of the frontonasal elevation. It could occur either in isolation or as part of a syndrome such as frontonasal dysplasia associated with periventricular heterotopia. Our goal is to document the first clinical case of prenatal diagnosis for frontonasal dysplasia associated with periventricular heterotopia by fetal magnetic resonance imaging (MRI) at weeks 19.5 and 29 and postnatal MRI. In conclusion, the presence of frontonasal dysplasia in a prenatal ultrasonography should always be followed by a fetal MRI with routine screening for periventricular nodular heterotopias so as to establish a more adequate prognosis for the family.

Prenatal diagnosis of isolated frontonasal dysplasia: A case report

“…Guion‐Almeida et al studied 21 patients with FND and identified a large number of neurologic problems: callosal agenesis (12 cases), basal encephalocele (10 cases), lipoma of the corpus callosum (four cases), and mental retardation (11 cases) 4 . Mental retardation and other neurological unfavorable outcomes (like motor dysfunction and epilepsy) are related to the presence of central nervous system abnormalities, which could affect up to 50% of the patients 3,7 . Additional studies such as fetal magnetic resonance imaging (MRI) could be helpful in diagnosing subtle findings otherwise unnoticed on US examination such as periventricular heterotopias 7 .…”

“…Mental retardation and other neurological unfavorable outcomes (like motor dysfunction and epilepsy) are related to the presence of central nervous system abnormalities, which could affect up to 50% of the patients 3,7 . Additional studies such as fetal magnetic resonance imaging (MRI) could be helpful in diagnosing subtle findings otherwise unnoticed on US examination such as periventricular heterotopias 7 . These findings can be very helpful for prognosis and patient counseling.…”

“…Associated anomalies include, among many others, microphthalmia, 2‐5 agenesis and lipoma of the corpus callosum 2,3 midline cysts, 5 abnormal cerebellum, 6 gyral anomalies and neuronal heterotopias, 6,7 macrocephaly, 3 basal anterior cephalocele, 2,3,8 cleft lip and palate, 5,7 ear tags, 3 tetralogy of Fallot, 2,3 among others. Mental retardation is present in 12% if isolated and in up to 50% if associated with central nervous system abnormalities.…”

“…The syndromes within the FND spectrum are diverse and genetically heterogeneous 8 . Most cases are sporadic, but autosomal recessive and X‐linked forms as well as genetic mutations (ALX3, ALX4, ALX1, SIX2, EFNB1, ZSWIM6), have also been reported 5‐11 . Identified genetic causes account for only a small fraction of cases with the majority of affected individuals yet to attain a molecular diagnosis 8 …”