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Participant 067


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Male, age 7 with global developmental delay, lack of coordinated movement (dysmetria), toe walking, right sided weakness, right hearing impairment, and weak cartilage in the walls of the larynx (laryngomalacia)

Date of Report

May 16, 2018

Description

Shortly after birth, it was noticed that the participant had a large indentation of the skin on his lower back (sacral dimple) and large spaces between the bones of his skull (large fontanelles), but ultrasounds of the spine and head were normal. He was also found to have abnormal breathing (stridor) and required surgery at 4 months to correct this. After surgery, the participant had weak cartilage in the walls of the larynx (laryngomalacia) and developed difficulty breathing while sleeping (sleep apnea) at 7 months.

The participant started walking at 18 months and began to show an unstable gait and toe walking. To help with his walking, he began to wear ankle and foot orthoses (AFOs) and still wears them today. Currently the participant can walk short distances, but tires easily and struggles with fatigue.

Some of his other symptoms include recurrent ear infections (otitis media), hay fever (allergic rhinitis), and discoloration of the back of the eye (unusual macular pigmentation, abnormality of retinal pigmentation). The participant also has right hearing impairment and right sided weakness.

Symptoms / Signs
  • Global developmental delay
  • Delayed gross motor development
  • Delayed speech and language development
  • Autism
  • Lack of coordinated movement (dysmetria)
  • Fatigue
  • Gait imbalance
  • Toe walking
  • Poor motor coordination
  • Right muscle weakness
  • Inability to fully straighten knee (flexion contracture)
  • Tightened muscles of legs, hips and pelvis (spastic diplegia)
  • Increased muscle tone (hypertonia)
  • Frequent falls
  • Large spaces between bones of skull (large fontanelles)
  • Weak cartilage in walls of larynx (laryngomalacia)
  • Difficulty swallowing (dysphagia)
  • Abnormal breathing (stridor)
  • Difficulty breathing while sleeping (sleep apnea)
  • Recurrent ear infections (otitis media)
  • Hay fever (allergic rhinitis)
  • Narrow forehead
  • Downslanted eyes (palpebral fissures)
  • Mildly droopy eyes (mild bilateral ptosis)
  • Discoloration of the back of the eye (abnormality of retinal pigmentation, unusual macular pigmentation)
  • Posteriorly rotated ears
  • Right hearing impairment
  • Upper edge of ear folded more than normal (overfolded helix)
  • Single crease on palms (bilateral single transverse palmar creases)
  • Different position of swirling pattern of hair on back of head (abnormal position of hair whorl)
  • Pointed chin
  • Flat feet (pes planus)
  • Bent 3rd toes (bilateral clinodactyly of 3rd toe)
  • Constipation
  • Involuntary urination (urinary incontinence)
  • Indentation of the skin on the lower back (sacral dimple)
Current Treatments
Prior Treatments
  • Ditropan– urinary incontinence
Considered treatments
Previously Considered Diagnoses
  • Cerebral palsy
  • Microdeletion/duplication syndrome
  • Mitochondrial condition
  • Myopathy
  • Single gene disorder (exome sequencing non-diagnostic)
Other Photographs
Genetic Variants of Interest
Contact

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