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Participant 152


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Female, age 3 with facial differences, heart abnormalities (hypoplastic left heart syndrome, mitral regurgitation, aortic insufficiency), kidney abnormalities (vesicoureteral reflux, hydronephrosis, medullary nephrocalcinosis) and global developmental delay

Date of Report

Oct 28, 2019

Description

The participant was born after an uncomplicated pregnancy, however, she had difficulty breathing after birth. She was also found to have a heart murmur and heart abnormalities (hypoplastic left heart syndrome, mitral stenosis, mitral regurgitation, aortic insufficiency, endocardial fibroelastosis). Due to poor ventricular function, she could not have surgery and was placed on the list for a heart transplant. She received a transplant at 5 months old. A gastrostomy tube was placed at that time to help with feeding.

The participant has delayed motor and language skills. She began walking at 14 months and started using words at 15 months. She is a social and happy child and attends preschool. She has some difficulty with pronunciation as well as grabbing items with her hands. She currently receives physical, occupational, feeding and speech therapy.

A recent evaluation showed average cognitive functioning, difficulty with word retrieval, controlling impulses and overall behavioral and emotional regulation.

Symptoms / Signs
  • Global developmental delay
  • Facial differences (different facial shape, coarse facial features, long eyelashes, thick eyebrow, downslanted palpebral fissures, wide mouth, short nose)
  • Low hairline on forehead (low anterior hairline)
  • Underdevelopment or absence of the earlobes (aplasia/hypoplasia of the earlobes)
  • Difficulty swallowing (oral-pharyngeal dysphagia)
  • Respiratory insufficiency
  • Deep crease on palm (deep palmar crease)
  • Broad thumb
  • High blood pressure (hypertension)
  • Heart abnormalities (abnormal heart morphology, congestive heart failure,
  • tachycardia, hypoplastic left heart, atrial fibrillation, systolic heart murmur, congenital malformation of the left heart)
  • Gastroesophageal reflux
  • Backflow of urine from bladder to kidneys (vesicoureteral reflux)
  • Excess fluid in the kidneys (hydronephrosis)
  • Abnormal calcification in the kidneys (medullary nephrocalcinosis)
  • Enlarged liver (hepatomegaly)
  • Sleep disturbance (sleep apnea)
  • Low muscle tone (generalized hypotonia, muscular hypotonia of the trunk)
  • Feeding difficulties
Current Treatments
  • Amilodapine
  • Cellcept, prograf – heart transplant
  • Gastrostomy tube – feeding difficulties
  • Singulair, symbicort – breathing difficulties
Prior Treatments
  • Speech, occupational, physical, feeding therapy
Considered treatments
Previously Considered Diagnoses
  • Micro-deletion/duplication syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Chr2:197866532
NM_001195144.1
c.2380C>T
p.Q794*
Contact

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