Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2004 Jul;71(7):593-7.
doi: 10.1007/BF02724118.

Spectrum of holoprosencephaly

Seema Thakur  1 , Renu Singh, M Pradhan, Shubha R Phadke
Affiliations

Spectrum of holoprosencephaly

Seema Thakur et al. Indian J Pediatr. 2004 Jul.

Abstract

Objective: To conduct a clinical study of holoprosencephaly (HPE).

Method: Thirteen cases of HPE were studied regarding their clinical features, family history, and prenatal and imaging studies. Chromosomal analysis was done whenever fresh sample was available.

Results: Six cases were antenatally detected by ultrasound; four cases were stillborn. Three cases were identified by neuroimaging done a part of evaluation of developmental delay or cleft lip. Eleven of them had facial anomalies characteristics of HPE. Two of these had subtle facial features and microcephaly. Karyotype was abnormal in 2 of 7 cases studied.

Conclusion: Most of the cases of HPE present antenatally or at birth. Milder forms like lobar and semilobar can present as developmental delay during infancy. Facial anomalies are usually associated with HPE. Chromosomal study of the case and clinical examination of the parents is essential for providing information regarding risk of recurrence to the family.

PubMed Disclaimer

References

    1. Pediatrics. 1964 Aug;34:256-63 - PubMed
    1. Cytogenet Cell Genet. 2000;89(3-4):220-4 - PubMed
    1. Hum Mol Genet. 1999 Dec;8(13):2479-88 - PubMed
    1. J Craniofac Genet Dev Biol. 1992 Oct-Dec;12(4):196-244 - PubMed
    1. Nat Genet. 1998 Oct;20(2):180-3 - PubMed