Pituitary gland height neurohypophysis brightness or ectopia, an undescended posterior lobe, infundibulum morphology, absence of corpus callosum and of septum pellucidum, optic nerve and chiasma,
holoprosencephaly, schizencephaly, cerebellar hypoplasia, absence of fornix and presence of Chiari malformation should be assessed with imaging (66).
Dysgnathia complex sine
holoprosencephaly nor synotia: a case report and discussion of its nosology.
The mother was referred due to the ultrasonographic finding of
holoprosencephaly, single-nostril, thalamic fusion, hypotelorism, absence of nasal bone, and bilateral echogenic kidneys.
Common cephalic disorders include anencephaly, colpocephaly,
holoprosencephaly, ethmocephaly, hydranencephaly, iniencephaly, lissencephaly, megalencephal, microcephaly, porencephaly, and schizencephaly.
Holoprosencephaly, encephalocele, myelomeningocele, dysplastic calvaria, agenesis of the corpus callosum, ventriculomegaly, Arnold-Chiari malformation, omphalocele, gastroschisis, low nasal bridge, exophthalmia, heart defects, and renal agenesis are the other described associated abnormalities (7,11).
The specific diagnosis of those among the nonexposed group were congenital malformation of corpus callosum (9%; 81/943),
holoprosencephaly (24%; 225/943), and septooptic dysplasia (0.6%; 6/943).
GAS1 has been associated with peripheral neuropathy, semilobar
holoprosencephaly, and alobar
holoprosencephaly diseases in humans [20].
Holoprosencephaly (HPE), one of the most common developmental anomalies of the brain, is a clinical presentation resulting from the failure of the prosencephalon to develop into two hemispheres in the early stages of embryogenesis (1).
([section]) Neural tube defects and other early brain malformations (anencephaly/acrania, encephalocele, spina bifida, and
holoprosencephaly).
It is frequently associated with other abnormalities: heminasal aplasia/hypoplasia, mental retardation, callosal agenesis, encephalocele, microphthalmia,
holoprosencephaly, and clefts [3-6], or may occur in isolation [4, 5].
Tet1/2 DKO Embryonic stage death and little normal growth [113] (1) Dendritic arborization Tet1/3 DKO inhibition in mice [114] Tet1/2/3 TKO (2)
Holoprosencephaly [115].