↓ Skip to main content

Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report

Overview of attention for article published in Journal of Medical Case Reports, August 2016
Altmetric Badge

Mentioned by

twitter
1 tweeter

Citations

dimensions_citation
1 Dimensions

Readers on

mendeley
10 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report
Published in
Journal of Medical Case Reports, August 2016
DOI 10.1186/s13256-016-0997-1
Pubmed ID
Authors

Siobhán O’Keefe, Dieter T. Wefuan, Jennifer B. Humberson, Karen Schmidt, John Wiley

Abstract

Pierpont syndrome was first described in 1998 with key characteristics including developmental delay, dysmorphic facial features, fat pads on hands and feet, and feeding difficulties. To date the mechanism of inheritance is unknown. Nine out of ten previously described patients with Pierpont syndrome were boys. This is the first report of a case of a non-white patient with Pierpont syndrome and she is the second female patient to be described as having Pierpont syndrome. Our patient is a 16-month-old Hispanic girl with extreme developmental delay, microcephaly, large ears, short and thick upper lip, broad philtrum, widely spaced teeth, constipation, dysphagia, fat pads on feet and hands, autistic behavior and seizure-like episodes. She had a normal karyotype (46,XX), and array testing showed greater than 8 % homozygosity with otherwise normal results. Genes within these areas of homozygosity may provide clues to an etiology and suggest autosomal recessive inheritance. This case report highlights the possibility of ethnic variations in this syndrome's presentation, which may have ramifications in uncovering the pathogenesis as well as expanding the phenotype. Pierpont syndrome should be considered in the evaluation of children with the described features, regardless of their gender and ethnicity.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 10 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 10 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 4 40%
Student > Ph. D. Student 2 20%
Other 1 10%
Student > Bachelor 1 10%
Student > Postgraduate 1 10%
Other 0 0%
Unknown 1 10%
Readers by discipline Count As %
Medicine and Dentistry 3 30%
Psychology 3 30%
Economics, Econometrics and Finance 1 10%
Nursing and Health Professions 1 10%
Engineering 1 10%
Other 0 0%
Unknown 1 10%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 19 August 2016.
All research outputs
#9,071,166
of 11,329,665 outputs
Outputs from Journal of Medical Case Reports
#934
of 1,684 outputs
Outputs of similar age
#184,262
of 261,020 outputs
Outputs of similar age from Journal of Medical Case Reports
#34
of 84 outputs
Altmetric has tracked 11,329,665 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,684 research outputs from this source. They receive a mean Attention Score of 3.4. This one is in the 16th percentile – i.e., 16% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 261,020 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 17th percentile – i.e., 17% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 84 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.