Atelencephalic microcephaly in a 21-week human fetus

Teratology
J R SiebertR J Lemire

Abstract

Atelencephalic microcephaly, a rare and extreme disorder, is known morphologically by only six cases. Derivatives of the telencephalon are absent or dysplastic, while more caudal structures are normal or mildly deformed. A more extensive form, aprosencephaly, involves structures of the diencephalon and may be associated with holoprosencephalic facies. Extracranial anomalies may be present in both atelencephaly and aprosencephaly. We describe the seventh and youngest specimen, a 21-week female with atelencephaly. Maternal and gestational histories were unremarkable; the fetus was obtained by therapeutic abortion following diagnosis of a severe cranial malformation by ultrasound. A small and depressed, but intact, calvarium covered the brain. The forebrain was rounded and showed fused hemispheres, absent gyri, olfactory bulbs, and tracts. Caudal structures were mildly deformed. An oval mass of bone filled much of the middle cranial fossa. By light microscopy, several dysplastic changes were apparent in the forebrain. Ventricles were not present; small round cells resembling those of the germinal matrix were prominent in the forebrain. Pyramidal tracts were absent at all levels. The process responsible for these changes cannot be ...Continue Reading

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Citations

Feb 13, 2003·Brain & Development·Sridhar KalyanasundaramSudha Katariya
Sep 15, 1993·American Journal of Medical Genetics·C L GoldsmithA G Hunter
Aug 12, 2015·Pediatric Radiology·Usha D NagarajAdre J duPlessis
Mar 22, 2005·American Journal of Medical Genetics. Part a·Joseph R SiebertRaj P Kapur
Oct 7, 2005·American Journal of Medical Genetics. Part a·G RenzettiJanice L Byrne
Nov 15, 2007·American Journal of Medical Genetics. Part a·Joseph R Siebert
Sep 27, 2006·Birth Defects Research. Part A, Clinical and Molecular Teratology·M Michael Cohen
Mar 22, 2012·Fetal and Pediatric Pathology·Consolato SergiDeepak Kamnasaran
Jun 28, 1996·American Journal of Medical Genetics·S R FlorellD H Viskochil
Oct 1, 1994·Journal of Child Neurology·C P HarrisE C Klatt
May 18, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Youssef A KousaGilbert Vezina
Sep 6, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Catherine Fallet-Bianco

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