New parents Daniel Thompson and Georgina Wills discovered their baby had a rare condition called Exencephaly
- a a rare cephalic disorder where the baby's brain is located outside of the skull - when they went for a 12-week scan.
Daniel Thompson and Georgie Wills from Newton-le-Willows, discovered their baby had a rare condition called Exencephaly
when they went for a 12-week-scan.
1H), distorted axis (25.20%), hydrocephaly (9.43%), exencephaly
(8.06%), kyphosis (8.32%) and hygroma (45.20%).
The baby has exencephaly
a disorder that means the brain forms outside the skull.
The early embryonic lethality was also observed in GCN5-null mice : contrary to GCN5-null embryos, GCN5hat/hat embryos, with point mutations that abrogate GCN5 HAT activity, are viable but show cranial neural tube closure defects and exencephaly
2D ultrasound images (Voluson E8; GE Medical Systems, Zipf, Austria) revealed the absence of calvarium with deformed brain tissue directly exposed to the amniotic cavity, suggestive of exencephaly
Obstetric ultrasounds at 8 and 12 weeks of gestation showed a singleton fetus with no abnormalities; an ultrasound at 15 weeks of gestation demonstrated absence of the cranial vault (exencephaly
) with brain tissue loss, including absence of cerebral hemispheres (anencephaly sequence).
The morphological observations of fetuses showed anomalies like open eye lid, distorted body axis, kyphosis, skin hemorrhage, drooping wrist, microphthalmia, low set arm, kinky tail, exencephaly
anophthalmia, maxillary macrognathia, microcephaly, clubbed foot and microtia.
Teratogenic effects include abnormalities of the central nervous system, such as exencephaly
, encephalocele, and anophthalmia .
The curly tail mutant mouse has been used since 1976 as an experimental model to study NTDs , as the homozygous mutant ct (ct-/ct-) mouse is associated with NTD phenotypes (spina bifida, curly tail, and exencephaly
), although characterized by variable expression and incomplete penetrance.
The other associated malformations such as cyllosomas (another name for limb-body wall complex) are defined as anomaly consisting of two of the following three fetal anomalies: (a) thoracoabdominoschisis or abdominoschisis, (b) limb defect, (c) craniofacial defects: cleft lip/palate, encephalocele, exencephaly
, among others .
Failure of closure 1 leads to craniorachischisis (Figure 2(b)); failure of closures 2 and/or 3 causes exencephaly
and/or anencephaly, respectively (Figure 2(c)), while failure of neurulation to progress from the site of closure 1 caudally along the spinal axis leads to spina bifida aperta (Figure 2(d)).