ALTERACIONES

DEFECTOS DEL CIERRE DEL TUBO NEURAL

Dra. Mara Dolores Gonzlez Vidal

Cierre del tubo neural

 Summary of folate/methionine metabolic pathways (after J. M. Scott, et al, Neural Tube Defects (Ciba Foundation Symposium 181), G. Bock and J. Marsh, Eds. (John Wiley & Sons, Chichester, 1994), p. 180.), to show the site of action of the three anti-metabolites used in the study to block (open arrows). Abbreviations: TS, thymidylate synthase; DHFR, dihydrofolate reductase; MAT, methionine sadenosyl transferase.

Anencefalia

 Homozygous Sp2H embryos from litters treated in utero with either folic acid or thymidine (both 10 mg/kg body weight). Extensive NTD are visible affecting the cranial (arrowheads) and low spinal (arrows) regions of the PBStreated embryo (A), whereas the embryos treated with folic acid (B) and thymidine (C) have developed normally and lack NTD. Scale bar represents 1 mm

 Exencephaly

A. Normal spinal column B. Spina bifida occulta C. Meningocele D. Myelomeningocele

A. Spina Bifida Occulta. Spina bifida occulta is a developmental anomaly in which posterior spinal vertebrae fail to close. This anomaly usually involves one or two vertebrae at the sacral or lumbar area, although it may occur at any place along the spinal column. The spot is evident as a depression in the skin. Often there is a tuft of hair growing at the place of the depression. B. Meningocele. A meningocele is a pouching of the meninges and cerebrospinal fluid through a defect in the posterior surface of the spinal vertebrae. The meningocele may be covered by a layer of skin, or it may be denuded, with just the fibrous dura matter exposed. C. Myelomeningocele. A myelomeningocele is a pouching of the spinal cord, the meninges and cerebrospinal fluid through a defect in the posterior spinal vertebrae. Often the spinal cord ends at the level of the myelomeningocele, and so there willl be no motor or sensory function below this point. As this is lower motor neuron damage, the child will have faccidity of the lower extremities and loss of bowel and bladder control. The infant's legs are lax; the baby does not move them, and urine and stools continually dribble because of lack of sphincter control. It is generally difficult to tell from the gross appearance of the myelomeningocele whether or not it is the simpler meningocele.

Mielomeningocele

Encefalocele occipital

Microcefalia

Natasha Popova Chernobil

Megacolon Aganglionar Congnito Enfermedad de Hirsprung

 Catarata congnita
Congenital cataracts are cataracts which are present from birth (or appear shortly after). They may be familial (autosomal dominant inheritance), or they may be caused by congenital infections such as rubella(German measles), or associated with metabolic disorders such as galactosaemia. Risk factors include inherited metabolic diseases, a family history of cataract, and maternal

viral infection.

Catarata congnita

Colobama

Coloboma de Retina

 Severe Microphthalmia Microphthalmia, anophthalmia and coloboma are related structural eye defects that occur in 1 in 5000 births. We have recently completed a study that identified all the children with MAC born in Scotland between 1981-1996. We are using the DNA samples collected from 84 of these children to screen for mutations in genes expressed during eye development. We are also using apparently balanced chromosome rearrangements associated with MAC to identify causative genes.

Microftalmia

Anoftalmia

Anquiloblfaron

Los pliegues palpebrales quedan fusionados, puede presentarse de forma parcial o total.

Ciclopia

Aniridia

Heterocromia del Iris

Anotia/microtia

Formas anormales de la oreja

fstula preauricular

oreja recortada

lbulo adherido

apndice auricular

lnea en el lbulo de la oreja

hendidura en la oreja

tubrculo darwiniano

oreja deformada