Article

Presenting physical characteristics, medical conditions, and developmental status of long-term survivors with trisomy 9 mosaicism.

Southern Illinois University Carbondale, Educational Psychology and Special Education, USA.
American Journal of Medical Genetics Part A (impact factor: 2.39). 05/2011; 155A(5):1033-9. DOI:10.1002/ajmg.a.33928 pp.1033-9
Source: PubMed

ABSTRACT Much of the available literature on individuals with trisomy 9 mosaicism focuses on reports concerning results of prenatal testing or fetal autopsy with limited reports of long-term survivors. Data from the Tracking Rare Incidence Syndromes (TRIS) project offer the largest series to date examining the presenting physical characteristics and medical conditions at birth for 14 individuals. Results indicated the presence of low set ears and microcephaly for some children in the sample. Cardiac anomalies were reported along with feeding and respiratory difficulties in the immediate postnatal period. In addition, developmental status data indicated a wide range in functioning level with examples of demonstrated skills provided. Implications for professionals caring for patients with trisomy 9 mosaicism are offered.

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    Article: Peters anomaly with post axial polydactyly, bilateral camptodactyly and club foot in a Kenyan neonate: a case report.
    Aruyaru Stanley Mwenda
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    ABSTRACT: A case of bilateral Peters anomaly with bilateral post axial polydactyly, bilateral camptodactyly, and club foot was examined in a neonatal Kenyan baby girl of African descent who had been delivered in the hospital and admitted to the newborn unit. She died aged five days. There are no cases of Peters anomaly recorded in Africa according to a literature search. In addition, available data point to the majority of the principal associations in Peters anomaly to be genitourinary anomalies, making this case a rare one in its isolated collection of musculoskeletal associations. A Kenyan baby girl of African descent who was born through a caesarean section presented in the new born unit of our hospital with bilateral corneal opacities, bilateral polydactyly, camptodactyly and club foot. This is a rare case of Peters anomaly and its association with multiple musculoskeletal abnormalities makes it special.
    Journal of Medical Case Reports 01/2012; 6:16.
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Keywords

children
 
developmental status data
 
immediate postnatal period
 
largest series
 
limited reports
 
long-term survivors
 
low
 
medical conditions
 
prenatal testing
 
presenting physical characteristics
 
professionals
 
reports
 
respiratory difficulties
 
Tracking Rare Incidence Syndromes
 
trisomy 9 mosaicism
 
wide range
 

Deborah Bruns