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ارجو الافادهpeter plus syndrome

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ارجو الافادهpeter plus syndrome

Peters Plus syndrome:

Peters Plus syndrome is a rare disorder in which Peters anomaly is usually associated with short limb dwarfism and mild to severe learning disability. The facial features of this syndrome are prominent in most cases. The face is round or triangular with a short nose and a long cupids bow lips.
The eyes seem widely spaced amd the forehead is prominent. In most cases the limbs are short and vision is impaired in some way. In Peters anomoly the opacity tends to be more central. Hypertonia, joint hyperextensibility, congenital heart defects, renal abnormalities, and in some cases mental retardation is included inthe specrtum.

Features of Peters Plus syndrome associated with Peters anomaly may include:
* learning disability or mental retrdation in over eighty per cent of cases;
* cleft lip and/or palate in over forty per cent of cases;
* hydrocephalus;
* short hands with tapering or webbing of the fingers;
* heart anomalies (heart defects);
* cataracts; glaucoma and clouding
* genitourinary abnormalities;
* hearing abnormality;
* hypotonia and lax joints.
* low birth weight and premature birth
* Short stature, proportionate
* short stature, short limbs
* Macrocephaly
* Aqueductal stenosis
* Agenesis/hypoplasia of corpus callosum
* Hydrocephaoly/large ventricles
* Prominent forehead/frontal bossing
* Dysplastic ears or low-set ears
* Auricular pits/fistuals
* Auricular tags
* Absent auditory canal
* Narrow/atretic auditory canal
* Deafnes, conductive
* Hypertelorism
* Anterior chambe rabnormalities
* Peters' anomaly
* Rieger anomaly
* cloudy corneae/sclerocornea
* Microcornea
* Glaucoma, cataracts
* Iris atrophy/dysplasia
* Short palpebral fissures
* Upturned nose
* Depressed flat nasal bridge
* Nasal columella, general abnormalities
* Anteverted nares
* Broad face
* Triangular face
* Small mandible/micrognathia
* Down-turned corners of the mouth
* Macrostomia
* Thin upper/lower lip
* Cleft Palate/lip
* Simple/absent philtrum
* Long philtrum
* Sacral dimple/sinus
*Atrial setum defect
* Ventricular septal defect
* Absent uterus
* Hypospadias
* Crpytorchid testes
* Ectopic/supernumerary kidneys
* Double ueters
* Rhizomelia of upper limbs
* Brachydactyly, clinodactyly
* Rhizomelia of lower limbs
* Delayed bone age
* Acid reflux
* Epilepsy

Prenatal diagnosis:
In very few cases PPS is diagnosed prenatally. Most prenatal diagnosis are given in cases of siblings having similar traits with a prior diagnosis. At the time of an ultrasound Peters plus can be detected when the unborn child is showing S & S of hydrocephulus, clouding of the cornea, and shortened stature, as well as any of the other traits listed above.
Prenatal diagnosis are rarely given. In most pregnancies where the mother is caring a child with PPS the pregnancy can be complicated. When an unborn child is diagnosed with any kind of severe abnormalities the pregnancy will be followed much closer than a healthy pregnancy.
Some steps may include weekly unltrasounds, extensive bloodwork, and Fetal MRI and ctscans.
PPS is still being studied by scientists and geneticists.


http://www.ncbi.nlm.nih.gov/bookshel...rt=peters-plus (my fav PPS resource)

http://www.cafamily.org.uk/Direct/p19.html

http://www.makingcontact.org/index.php?ci=1261

http://www.ncbi.nlm.nih.gov/entrez/d....cgi?id=261540

http://www.ibis-birthdefects.org/start/peterspl.htm

http://www.macs.org.uk/bbs/general2/4.html

http://pub46.bravenet.com/forum/3897517148

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