Tag Archives: Ullrich-Turner Syndrome

Crouzon Syndrome

Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw. (from ghr.nlm.nih.gov)


Image from BMJ (link)                                   Large Image (1020 x 1280 pixels)

Image from BMJ (link)                           Larger Image (1030 x 1280 pixels)

Crouzon syndrome is seen in about 16 per million newborns. It is the most common craniosynostosis syndrome.

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Turner Syndrome

Turner syndrome or Ullrich-Turner syndrome , 45 XO, encompasses several conditions in human females, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which two are sex chromosomes). Normal females have two X chromosomes, but in Turner syndrome, one of those sex chromosomes is missing or has other abnormalities. In some cases, the chromosome is missing in some cells but not others, a condition referred to as mosaicism or “Turner mosaicism”.


image from Haiticoramdeo.blogspot

Occurring in 1 in 2000– 1 in 5000 phenotypic females, the syndrome manifests itself in a number of ways. There are characteristic physical abnormalities, such as short stature,swelling, broad chest, low hairline, low-set ears, and webbed necks. Girls with Turner syndrome typically experience gonadal dysfunction (non-working ovaries), which results inamenorrhea (absence of menstrual cycle) and sterility. (adapted from wikipedia)

Karyotype 

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