**11. References**

[1] Wheatley DN. Landmarks in the first hundred years of primary (9+0) cilium research. Cell Biol Int. 2005; 29: 333-9.

PHENOTYPE: Head: macrocephaly, prominent forehead. Eyes: coloboma, nystagmus, strabismus, ptosis. Ears: low-set and thick. Nose: broad nasal bridge, epicanthus, anteverted nostrils. Open mouth, tongue protusion with rhythmic tongue movements. Neurological: generalized hypotonia, frog posture, hyperpnea followed by apnea. Ataxia. Other: polydactyly, seizures, scoliosis, congenital heart disease, pigmented retina. MRI: molar sign: There are 4 specific abnormalities: 1) Increased posterior interpeduncular fossa and decreased length of the isthmus. 2) Thick and elongated superior cerebellar peduncles in greater perpendicular orientation towards brainstem compared with normal orientation. 3)

INHERITANCE: AR. GEN: two genes (EVC y ECV2). LOCUS:14p16. Protein: EVCS protein. Condroectodermal dysplasia, Mesoectodermal dysplasia. Incidence: 0.5x100.000. 30%

PHENOTYPE: Acromesomelic dwarfism resulting in disproportionately short limbs, predominantly in the lower limbs and most striking distally (farthest from central trunk or midline). Final height reached is between 109 to 155cm. Postaxial polydactyly in hands and, occasionally, feet. Carpal and pastern bones fusion. Cleft lip at the junction of the upper

Congenital heart disease (50-60%), septal defects, single atrium. Differential diagnosis with short rib-polydactyly syndromes: Jeune syndrome or asphyxiating thoracic dystrophy and

INHERITANCE: RA. GENES: 2 (JATD1,JATD2). LOCI :15q13, 3q24-26. Protein:

PHENOTYPE: Retinal degeneration, kidney cysts, hepatic portal fibrosis, affecting infants who die of asphyxia in the neonatal period secondary to small chest with short ribs. Skeletal: Chondrodysplasia; shortness of long bones, hypoplastic iliac wings, conical epiphysis and

Recent studies provide evidence for novel functions of primary cilia ranging from mechanosensory and cellular homeostasis, to signal transduction pathways that regulate intracellular Ca2+levels. Their importance in key developmental pathways such as Sonic Hedgehog and Wnt is beginning to emerge. Defects in cilia formation or function have profound effects on the development of body pattern and the physiology of multiple organ systems. Thus, impairment of ciliar function is involved in organ specific diseases (e.g. polycystic kidney disease, retinitis pigmentosa) as well as pleiotropic syndromes (e.g. Bardet-Biedl, Alstrom, Meckel-Gruber and orofaciodigital syndromes) of unknown origin until recently. Increasing knowledge of the ciliar role in morphogenesis pathways in conjunction with genetic studies is helping to characterize a new group of diseases,

[1] Wheatley DN. Landmarks in the first hundred years of primary (9+0) cilium research.

Hypoplastic or aplastic superior cerebellar vermis.4) Sagittal vermian cleft.

consanguineous. Common among the Pennsylvania Amish population.

hemi-lips, and labiogingival frenulum hypertrophy.

**Asphyxiating Thoracic Dystrophy, Jeune Syndrome.** 

phalangeal fusion. Polydactyly. OTHER: impaired pancreatic ...

intraflagellar transport protein 80 homolog

previously unconnected to each other.

Cell Biol Int. 2005; 29: 333-9.

**Ellis-Van Creveld syndrome** 

oro-facio-digital syndrome.

**10. Conclusion** 

**11. References** 


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**9** 

**Review of Printed and Electronic** 

Eduardo Joaquim Lopes Alho1,2, Lea Grinberg2, Helmut Heinsen1 and Erich Talamoni Fonoff1

The scientific developments of the latter half of the 19th century and the beginning of the 20th century supplied comprehensive data and insight on brain structure and function. Knowledge on structure and function provided strategies and tools for the management of previously lethal or highly incapacitating diseases, e.g. Parkinson's disease (PD) and tremor. A major challenge for neurosurgery was the endeavor to reach some deep and hitherto hidden regions inside the brain without damaging the surrounding tissue, since most of these small regions are vital and not directly visible *in situ*. Using the Cartesian coordinate system based on cranial landmarks, Victor Horsley and Robert Clarke introduced in 1908 a new apparatus that allowed them to accurately target subcortical nuclei of monkeys (Horsley & Clarke, 1908) with quasi-mathematical precision. A modified version of this device was adopted by Spiegel and Wycsis (1947) for human intracerebral interventions. Nevertheless, the space in which these mechanical devices were navigating still remained obscure and perilous. Almost four decades later, the parallel progress of neuroimaging shed light into the hitherto hidden structures and regions of the human brain. However, in order to find out appropriate pathways to specific functional units within clinically relevant targets the necessity of detailed brain maps was mandatory. Even with the great advance in neuroimaging in the last twenty to thirty years, it is still not possible to unequivocally delineate closely related subcortical structures by means of high-resolution computed tomography (CT) or in magnetic resonance image (MRI) (Coffey, 2009). For this reason, brain atlases derived from appropriate histological, histochemical, or immunohistochemical techniques on post-mortem human brain tissue continue to represent an important tool for functional neurosurgeons and brain researchers. To supplement the post-mortem anatomic maps, electrophysiologic in vivo recording of neuronal activity was added to neurosurgeries. This technique is intended to be an ancillary method to assist neurosurgeons in verifying their targets. In this chapter we will summarize and critically review the merits and the shortcomings of the most frequently consulted atlases. Some ideas

on scope, form, and presentation of future atlases will be forwarded.

**1. Introduction** 

**Stereotactic Atlases of** 

*1Julius-Maximilian University of Würzburg* 

**the Human Brain** 

*2University of São Paulo* 

*1Germany 2Brazil* 

