Thickening of the ectoderm, which is known as the otic
placode, constitutes the embryological basis of the IE.
The protrusion forms in the dorsal wall of the aortic sac, which has a core derived from the second heart field, with only its outer layer derived from the cardiac neural crest,[7] which is defined as the neural crest residing between the otic
placode and the third somite.
Similarly, lens formation begins in the third week of gestation as the "lens
placode" and initial development concludes in the seventh week.
Interestingly, SU5402 treatment at E12.5 only results in narrower tooth bud formation, indicating that FGF signaling takes part in epithelium stratification but not
placode invagination [86, 87].
The cleft lip and palate defect occurs due to defect in the fusion of frontonasal, maxillary, and mandibular processes, while the proboscis lateralis occurs as a result of displacement of the nasal
placode during the formation of the nose [1, 2].
Further, Pax6 is specifically expressed in the lens
placode through a combination of activation by Sox2, Oct-1, and Foxe3 in the surface ectoderm and inhibition by TGF[beta] and Wnt signaling in the periocular neural crest [47-51].
Notably, the expression of Pax2 is one of the first indicators of otic
placode induction, and it continues to be expressed in various regions of the ear throughout subsequent stages of development.
Since the embryonic migration of GnRH neurons from the nasal
placode towards their final destination in the hypothalamus occurs in association with olfactory receptor neurons, the resulting phenotype includes anosmia in addition to HH.
At E2.5, we found that developing inner ear can be noticed by thickening of the ectodermal epithelium, otic
placode. Invagination of such
placode contributed to the otic cup closure and then the otic vesicle is completely formed (Brigande et al.; Sai & Ladher, 2015).
The main goal for prenatal repair of MMC is to achieve skin closure to prevent further damage of the
placode and arrest the CSF leak.
The genetic locus for X-linked Kallmann syndrome has been assigned to be X p 22.3, where the KAL-1 gene encodes Anosmin 1, which plays a role in normal migration of both GnRH secreting neurons and axons of olfactory neurons from the olfactory
placode to the brain, thus linking anosmia with hypogonadotropism.