Prenatal Diagnosis of 5p Deletion Syndrome with Brain Abnormalities by Ultrasonography and Fetal Magnetic Resonance Imaging: A Case Report.
Fetal Pediatr Pathol
; 39(5): 446-451, 2020 Oct.
Article
en En
| MEDLINE
| ID: mdl-31553256
ABSTRACT
Introduction:
5p deletion syndrome commonly known as cri du chat syndrome is a well-described syndrome in neonates with catlike cry, craniofacial dysmorphic features, abnormal dermatoglyphics, microcephaly and severe psychomotor and developmental delay.Case report We report a case of 5p deletion syndrome diagnosed prenatally in association with mild ventriculomegaly, cerebellar hypoplasia, pontine hypoplasia, increased subarachnoid space and high suspicion of cortical hypoplasia with ultrasound, magnetic resonance imaging, and postmortem examination.Conclusion:
Best to our knowledge, this is the first case that pontine hypoplasia and increased subarachnoid space have been demonstrated prenatally and confirmed by postnatal autopsy.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Síndrome del Maullido del Gato
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Female
/
Humans
/
Newborn
/
Pregnancy
Idioma:
En
Año:
2020
Tipo del documento:
Article