Cranial-cerebro Phenotypical Overlapping Syndrome: Acrania, Meroanencephaly, Hydra-meroanencephaly
DOI:
https://doi.org/10.18041/2390-0512/biociencias.1.7617Keywords:
intracranial central nervous system disorders, hydrocephalus, neurogenesis, exencephaly, lissencephalyAbstract
Introduction: This is a female newborn with craniofacial characteristics of Acrania and Meroanencephaly, whose axial tomography reports "Anencephaly, hydrocephalus, normal cerebellum and normal brain stem"
Objectives: To establish the criteria to make a correct academic diagnosis of the clinical expression that compromises malformations of the brain and skull based on the morphogenetic regulation of these two fields.
Methods: Bibliographic research on the phenotypic overlapping of the pathology and the main genes that regulate these morphogenetic fields, and the opinions of medical geneticists with expertise.
Results: The diagnosis of the clinical case is a Hydra-Meroanencephaly due to having amniotic fluid in a cavity without a brain with the presence of the skull and the brain stem. The diagnostic impressions that can result from alterations in the development of these two morphogenetic fields are: Acrania with Mero-anencephaly, Acrania without Mero-anencephaly, Holo-acrania with Exencephaly and Lissencephaly and Hydra-Meroanencephaly.
Conclusions: In the expression of the pathology there are two different morphogenetic fields (brain and bone-cranial). The BMP4 and 7 genes may be involved in Acrania. The MKX1, BF1 and ligand / PACAP genes that initiate neurogenesis may be involved in Meroanencephaly. The genes MCPH1, ASPM, CDK5RAP2, and CENPJ are involved in brain size.
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