A Neonate Born with Holoprosencephaly Sequence of A Gestational Diabetic Mother: A Rare Case

Mymensingh Med J. 2020 Oct;29(4):1010-1014.


Holoprosencephaly is a rare spectrum of congenital malformation associated with midline facial defects and absence of olfactory tract. Sequence occurs at 4th to 8th week of gestational age due to failure or incomplete diverticulation and cleavage of primitive prosencephalon. It is most common brain malformation with an incidence 1:250 in conceptuses and associated with a high rate of spontaneous abortion, and prevalence of 1:16000 in live borns. The etiopathogenesis of holoprosencephaly is heterogeneous and multifactorial, may be environmental, metabolic factors or teratogenic including insulin-dependent maternal diabetes, alcohol consumption. In this study, we described a case of holoprosencephaly neonate with 34 weeks gestational age and antenatal ultrasonography diagnosed as congenital defects in the central nervous system, asymmetric growth of head. After birth the infant was presented with multiple congenital anomalies (cleft lip, cleft palate, microphthalmia, absent philtrum, absent nasal septum with single naris) similar to holoprosencephaly sequence.

Publication types

  • Case Reports

MeSH terms

  • Cleft Lip*
  • Cleft Palate*
  • Diabetes Mellitus*
  • Female
  • Holoprosencephaly* / diagnostic imaging
  • Holoprosencephaly* / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Mothers
  • Pregnancy