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Participant 177


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Male, age 4 with global developmental delay, low muscle tone of trunk (hypotonia), seizures, a history of clubbed feet (bilateral talipes equinovarus), head turned persistently to the right (torticollis), and webbing of the penis (penoscrotal fusion)

Date of Report

Jan 22, 2021

Description

The participant was born prematurely at 31 weeks gestation. At birth, he was noted to have webbing of the penis (penoscrotal fusion) and clubbed feet (bilateral talipes equinovarus) which were successfully casted. He received his nutrients through a NG (nasogastric) tube. He was discharged from the NICU after 6 weeks.

At 3 months of age, the participant became increasingly fussy. It was noticed that his back was arching, he usually kept his head tilted to the left (torticollis), and his eyes weren’t working together well.

At 10 months old, the participant’s reflux was successfully managed with Prilosec. At this time, short lingual and labial frenulum release procedures were performed in order to improve bottle feeding.

At 12 months of age, the participant was found to have global developmental delay. At this point, he was not rolling consistently, sitting up, or responding to his name. It was noted that his head was large in comparison to his body (relative macrocephaly).

At 23 months, the participant was able to sit unsupported but still could not pull himself up or crawl. He was also babbling and using a few words. His head doesn’t turn to the right (torticollis) as frequently, and his eye coordination has improved. He began crawling around 2.5 years old and started walking around 3.5 years.

Symptoms / Signs
  • Global developmental delay
  • Head tilted to one side (torticollis)
  • Low muscle tone of trunk (muscular hypotonia)
  • Clubbed feet (bilateral talipes equinovarus)
  • Seizures (bilateral tonic-clonic)
  • Large head when compared to body (relative macrocephaly)
  • Repetitive eye movements (latent nystagmus)
  • Wide eyes (long palpebral fissure)
  • Short philtrum
  • Triangular shaped lips (tented upper lip vermilion)
  • Small chin (micrognathia)
  • Single crease across the palm (single transverse palmar crease)
  • Short foot
Current Treatments
  • Prilosec
  • Gabapentin
  • Topomax – seizures
Prior Treatments
  • Casting for clubbed feet
  • Eye patching
  • Short lingual and labial frenulum releases
Considered treatments
Previously Considered Diagnoses
  • Chromosome disorders
  • Fragile X syndrome
  • Microdeletion/microduplication disorders
  • Mitochondrial disorders
Other Photographs
Genetic Variants of Interest

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

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Unknown
chr12:g.49543932C>T
NM_012284.2
c.841C>T
p.Arg281Cys
Contact

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