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Spectrum of holoprosencephaly

Seema Thakur1, Renu Singh, M Pradhan

  • 1Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

Indian Journal of Pediatrics
|July 29, 2004
PubMed

Insights

Holoprosencephaly (HPE) often presents antenatally or at birth with characteristic facial anomalies. Genetic and clinical evaluation is crucial for recurrence risk assessment in families.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Pediatric Neurology

Background:

  • Holoprosencephaly (HPE) is a complex congenital brain malformation.
  • Early detection and accurate diagnosis are critical for management and genetic counseling.

Purpose of the Study:

  • To present a clinical study of holoprosencephaly (HPE).
  • To analyze clinical features, family history, and diagnostic findings in HPE cases.

Main Methods:

  • Retrospective review of thirteen HPE cases.
  • Analysis of clinical presentations, family history, prenatal ultrasound, neuroimaging, and chromosomal analysis.

Main Results:

  • Six HPE cases detected antenatally via ultrasound; four were stillborn.
  • Facial anomalies were present in eleven cases; two had subtle features and microcephaly.
  • Abnormal karyotypes were found in 2 of 7 analyzed cases.

Conclusions:

  • HPE frequently presents antenatally or at birth, with milder forms potentially diagnosed later due to developmental delay.
  • Characteristic facial anomalies are common in HPE.
  • Chromosomal studies and parental examination are vital for assessing recurrence risks.
Abstract

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