Alobar holoprosencephaly survival beyond the neonatal period and associated comorbidities.

Authors

  • Getrud Mollel Ifakara Health Institute
  • Lucy Lawrence Mpayo
  • Martha Frenklin Mkonyi
  • Karim P Manji

Keywords:

Alobar holoprosencephaly, diagnosis, survival, comorbidities

Abstract

Holoprosencephaly results from incomplete cleavage of the forebrain during early embryogenesis period. Types of holoprosencephaly include alobar, semi-lobar, lobar and the middle interhemispheric fusion. Holoprosencephaly has been associated with various facial dysmorphism. DeMyer’s maxim of 1964 suggests that “the face suggests the brain”, where alobar holoprosencephaly presents with most severe forms of facial dysmorphism including cyclopia, synopthalmia and proboscis and a higher risk of mortality. We report two cases of alobar holoprosencephaly confirmed by magnetic resonance imaging (MRI) of the brain, one of which atypically survived beyond neonatal period.

References

References

Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis. 2007;2(1). doi:10.1186/1750-1172-2-8

Cohen MM. Holoprosencephaly: Clinical, anatomic, and molecular dimensions. Birth Defects Res A Clin Mol Teratol. 2006;76(9):658-673. doi:10.1002/bdra.20295

Monteagudo A. Holoprosencephaly. Am J Obstet Gynecol. 2020;223(6):B13-B16. doi:10.1016/j.ajog.2020.08.178

Kruszka P, Muenke M. Syndromes associated with holoprosencephaly. Am J Med Genet C Semin Med Genet. 2018;178(2):229-237. doi:10.1002/ajmg.c.31620

Roessler E, Hu P, Muenke M. Holoprosencephaly in the genomics era. Am J Med Genet C Semin Med Genet. 2018;178(2):165-174. doi:10.1002/ajmg.c.31615

Johnson CY, Rasmussen SA. Non-genetic risk factors for holoprosencephaly. Am J Med Genet C Semin Med Genet. 2010;154(1):73-85. doi:10.1002/ajmg.c.30242

Volpe P, Campobasso G, De Robertis V, Rembouskos G. Disorders of prosencephalic development. Prenat Diagn. 2009;29(4):340-354. doi:10.1002/pd.2208

Kaliaperumal C, Ndoro S, Mandiwanza T, et al. Holoprosencephaly: antenatal and postnatal diagnosis and outcome. Child’s Nervous System. 2016;32(5):801-809. doi:10.1007/s00381-016-3015-4

Raam MS, Solomon BD, Muenke M. Holoprosencephaly: A Guide to Diagnosis and Clinical Management. Vol 48.; 2011.

LaMantia AS. Why Does the Face Predict the Brain? Neural Crest Induction, Craniofacial Morphogenesis, and Neural Circuit Development. Front Physiol. 2020;11. doi:10.3389/fphys.2020.610970

Amirshahi M, Sanagoo A, Salehi A, et al. Alobar holoprosencephaly: A case report. Journal of Nursing and Midwifery Sciences. 2015;2(4):70. doi:10.18869/acadpub.jnms.2.4.70

Levey EB, Stashinko E, Clegg NJ, Delgado MR. Management of children with holoprosencephaly. Am J Med Genet C Semin Med Genet. 2010;154(1):183-190. doi:10.1002/ajmg.c.30254

Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis. 2007;2(1). doi:10.1186/1750-1172-2-8

Coi A, Santoro M, Pierini A, et al. Survival of children with rare structural congenital anomalies: a multi-registry cohort study. Orphanet J Rare Dis. 2022;17(1). doi:10.1186/s13023-022-02292-y

Downloads

Published

2024-09-16

How to Cite

Alobar holoprosencephaly survival beyond the neonatal period and associated comorbidities. (2024). JOURNAL OF AFRICAN NEONATOLOGY, 2(3), 56 – 61. https://janeonatology.org/index.php/jan/article/view/67

Similar Articles

You may also start an advanced similarity search for this article.