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متلازمة مواء القطة Cri du cat syndrome


متلازمة مواء القطة Cri du cat syndrome

المعلومة

Cri du cat Syndrome
It is caused by deletion in the short arm of chromosome 5.
It consists of : mental retardation, microphthalmia, and cry like a cat miaoing

متلازمة مواء القطة: سببها حذف في الذراع القصير للصبغي الجسمي الخامس .
علاماتها : تخلف عقلي، صغر بحجم العينين، وبكاء يشبه صوت مواء القطة .

المرجع

BRS pathology

ترجمة المعلومة : dr.tabban

Hot sauce's picture
by
طبيب مقيم

Cri du Chat Syndrome ("Cry of the cat" in French) is a genetic disorder caused by the loss or misplacement of genetic material from the fifth chromosome. It was first identified in 1963 by Professor Lejeune, who also identified the genetic cause of Downs Syndrome. He described the syndrome after the sound that many of the babies and young children make when crying.

This cry, along with some of the other notable features, is so characteristic of the syndrome that a doctor can usually identify the condition before a chromosome analysis has taken place.

As well as the physical features, Cri du Chat causes a varied level of mental handicap. There are a few children who attend mainstream education, but the majority of thechildren need more specialized education.

DAM's picture
DAM


الله يجزيك الخير أغنيت الموضوعVery Happy Very Happy

Hot sauce's picture
Hot sauce
طبيب مقيم


متلازمة مواء القطة: سببها حذف في الذراع القصير للصبغي الجسمي الخامس
علاماتها : تخلف عقلي، صغر بحجم العينين، وبكاء يشبه صوت مواء القطة

dr.tabban's picture
dr.tabban


a single palmar crease can b seen in these children
and they might have ASD , VSD, PDA or tetralogy of fallot
but the cry thingy disspears by age 2 and fortunately they are fertile

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Quote:
the sound that many of the babies and young children make when crying

the reason for the cat cry is cuz there is a defect in the development of the layrnx in these babies

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Mention other causes for microcephaly in neoborns :

it might be a AR inheretance
2ry to intrauterine infection
hypoxic ischemic encephalopathy

امرأة لا تتكرر's picture
امرأة لا تتكرر
السنة الخامسة


GENETIC COUNSELING

Recurrence risk
a. Patient’s sib

i. Recurrence risk for a de novo case is 1% or less

ii. Rare recurrences in chromosomally normal parents: most likely the result of gonadal mosaicism for the 5p deletion in one of the parents

iii. The risk is substantially high if a parent is a balanced carrier of a structural rearrangement. Risk should be assessed based on the type of structural rearrangement and its pattern of segregation

b. Patient’s offspring: female patients are fertile and can deliver viable affected offspring, with an estimated recurrence risk of 50%
2.

Prenatal diagnosis by amniocentesis, CVS, and PUBS for
chromosome analysis to detect 5p deletion

khalaf77

Quote:
microcephaly

The most affected part of the brain in microcephaly is the forebrain, and there is frequently associated macrogyria, pachygyria, and basal gangli atrophy

The diagnosis of microcephaly should be considered when the fetal head circumference is 3 SD below the mean for gestational age

The use of head circumference rather than biparietal diameter (BPD) is more appropriate in the diagnosis of microcephaly

khalaf77
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