J Korean Soc Plast Reconstr Surg.  2007 Jul;34(4):527-529.

A Case Report of Holoprosencephaly

Affiliations
  • 1Department of Plastic & Reconstructive Surgery, College of Medicine, Chungnam National University, Daejeon, Korea. nhk488@ cnu.ac.kr

Abstract

PURPOSE: Holoprosencephaly(HPE) is a rare developmental defect due to incomplete cleavages of the prosencephalon during the third week of fetal development. Chromosomal anomalies, genetic syndrome, teratogen, or genetic disorder of non-syndromic HPE are usually accepted as etiology. The consequences of prechordal mesoderm defect are varying degrees of deficit of midline facial development, especially the median nasal process(premaxilla), and incomplete morphogenesis of the forebrain. We experienced a case of lobar HPE with complete cleft lip and palate.
METHODS
A female newborn infant was born at 38+6 weeks' gestational age via NSVD. The infant's birth weight was 3.6kg, height 52cm, and head circumference 32.5cm, showing microcephaly, flat nose, median complete cleft lip & palate, and hypotelorism, along with defects of midfacial development including losses of premaxilla, philtrum, nasal septum, and columella.
RESULTS
There were no specific findings noted from the head and neck X-ray and tests for endocrine and metabolic disorders, but clinical characteristics of midface and dysgenesis corpus callosum on brain MRI were seen, so that this case was diagnosed with HPE.
CONCLUSION
HPE is divided into three categories of alobar, semilobar, and lobar prosencephaly according to the degree of cerebral hemisphere separation. Assesment of patient's brain abnormality and malformation is essential in determining the extent and benefit of surgical intervention. This case was included in the lobar type HPE which shows relatively good prognosis compared with other types and reconstruction of median complete cleft lip & palate and midfacial defects will be performed.

Keyword

Median cleft; Dysgenesis corpus callosum

MeSH Terms

Birth Weight
Brain
Cerebrum
Cleft Lip
Corpus Callosum
Equidae
Female
Fetal Development
Gestational Age
Head
Holoprosencephaly*
Humans
Infant, Newborn
Lip
Magnetic Resonance Imaging
Mesoderm
Microcephaly
Morphogenesis
Nasal Septum
Neck
Nose
Palate
Prognosis
Prosencephalon
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