background participants

Participant 133


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Female, age 3 with global developmental delay, failure to thrive, absent speech, and low muscle tone (hypotonia)

Date of Report

Jun 24, 2019

Description

The participant was delivered by C-section because she was in breech presentation. After birth she spent one day in the Neonatal Intensive Care Unit (NICU) because of jaundice and trouble feeding. In the first few weeks of her life, her parents noticed that she had low muscle tone (hypotonia). She was also found to have some differences in her facial features, such as drooping eyelids (ptosis), eye folds (epicanthus), and a smooth area between nose and upper lip (smooth philtrum).

At 4 months old, the participant was noted to have some developmental delays, poor suck, and gastroesophageal reflux (acid reflux). At 10 months, she was found to have breathing issues (apneic episodes), which were determined to not be seizures. Over the next two years she continued to have motor and speech delays. She first crawled at 24 months and was able to hold a bottle at 35 months. The participant is currently nonverbal; however, she has been making some sounds.

Symptoms / Signs
  • Global developmental delay
  • Absent speech
  • Failure to thrive
  • Feeding difficulties
  • Low muscle tone (hypotonia)
  • Small head size (microcephaly)
  • Flat spot on head (posterior plagiocephaly)
  • Astigmatism
  • Farsightedness (hyperopia)
  • Lazy eye (amblyopia)
  • Drooping eyelids (ptosis)
  • Eye fold (epicanthus)
  • Smooth and long area between nose and upper lip (smooth philtrum, long philtrum)
  • Thin upper lip (thin vermilion)
  • Short neck
  • Sunken chest (pectus excavatum)
  • Difficulty swallowing (dysphagia)
  • Gastroesophageal reflux (acid reflux)
  • Excess curvature of the spine (kyphosis)
  • Elevated serum aspartate aminotransferase
Current Treatments
Prior Treatments
  • Nasogastric tube – feeding difficulties
Considered treatments
Previously Considered Diagnoses
  • Angelman syndrome
  • Congenital disorder of glycosylation
  • Metabolic disorder
  • Microdeletion/duplication disorder
  • Noonan syndrome
  • Prader-Willi syndrome
  • Turner syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
unknown
chr17:71189228
NM_018714.2
c.20C>T
p.Ser7Leu
unknown
chr7:107013201
NM_006348.3
c.767C>T
p.Pro256Leu
unknown
chr11:72296600
NM_002599.4
c.1220T>G
p.Leu407Arg
Contact

If this participant sounds like you or someone you know, please contact us!

Disclaimer

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