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Related Experiment Videos

Holoprosencephaly in neonates

S P Ram1, A R Noor, Z Mahbar

  • 1Department of Paediatrics, Hospital Universiti Sains Malaysia, Kelantan.

International Journal of Pediatric Otorhinolaryngology
|March 1, 1994
PubMed
Summary

A single nostril is a rare sign of alobar holoprosencephaly, a severe brain malformation. This study details two neonates with this condition, highlighting associated anomalies and developmental delays.

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Pediatric Neurology

Background:

  • Alobar holoprosencephaly is a severe congenital brain malformation resulting from incomplete forebrain division.
  • A single nostril is an uncommon but significant finding that can be associated with holoprosencephaly.
  • Early identification of associated anomalies is crucial for management and prognosis.

Observation:

  • This report describes two female term neonates diagnosed with alobar holoprosencephaly.
  • The first neonate presented with a single nostril, hypotelorism, posterior cleft palate, iris/disc coloboma, and persistent tunica vasculosa lentis.
  • The second neonate exhibited cleft lip and palate and recurrent convulsions.

Findings:

  • Both neonates displayed significant gross motor and developmental delays.

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  • Cranial sonography and CT scans confirmed features consistent with alobar holoprosencephaly.
  • Karyotyping in the first neonate and her family revealed normal results, suggesting non-chromosomal factors may be involved.

    • Implications:

    • The presence of a single nostril may serve as an important diagnostic clue for alobar holoprosencephaly.
    • Understanding the spectrum of anomalies associated with this condition aids in comprehensive patient care.
    • Conservative management and close supervision are recommended for neonates with alobar holoprosencephaly and associated findings.