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Participant 117


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Female, age 16 with intellectual disability, seizures, and brain and skeletal abnormalities (craniosynostosis, congenital hip and knee dislocation, hydrocephalus with an Arnold-Chiari type I malformation)

Date of Report

Mar 22, 2019

Description

The participant was born early at 35 weeks. During the pregnancy, there was less amniotic fluid than normal (oligohydramnios). At birth, the participant was found to have knee and hip dislocations and skull and brain abnormalities (craniosynostosis, hydrocephalus with an Arnold-Chiari type I malformation). Her dislocations and skull abnormalities were fixed surgically in her first year. A shunt was also placed to alleviate excess fluid in her brain (hydrocephalus).

From early on, the participant was delayed developmentally. As an infant, she did not coo or babble. She started walking at age 4.5. Currently she has moderate intellectual disability and does not speak but is able to communicate some with a tablet.

The participant also has seizures, which started at age 12. During these seizures, she makes throwing movements and has twitching on her left side.

Symptoms / Signs
  • Intellectual disability
  • Absent speech
  • Low muscle tone (generalized hypotonia)
  • Poor coordination
  • Seizures (focal impaired awareness seizures)
  • Brain abnormalities (communicating hydrocephalus with an Arnold-Chiari type I malformation)
  • Skull abnormalities (lambdoidal craniosynostosis, metopic synostosis)
  • Flat forehead
  • Downslanting eyes (downslanted palpebral fissures)
  • Farsighted (hypermetropia)
  • Low-set ears
  • Underdeveloped ear (microtia)
  • Wide nasal bridge
  • Smooth area between nose and upper lip (smooth philtrum)
  • Misaligned teeth (dental malocclusion)
  • Extra wrist bones (accessory carpal bones)
  • Curvature of the spine (scoliosis)
  • Flat feet (pes planus)
  • Limited elbow movement
  • Congenital bilateral hip dislocation
  • Congenital knee dislocation
  • Acid reflux (gastroesophageal reflux disease)
  • Chronic inflammation of the esophagus (eosinophilic esophagitis)
Current Treatments
  • Diastatin, Keppra, Klonopin – seizures
  • Prilosec – gastroesophageal reflux disease
  • Norethindrone – birth control
Prior Treatments
  • Reclipsen – birth control
Considered treatments
Previously Considered Diagnoses
  • Kabuki syndrome
  • Pfeiffer syndrome
Other Photographs
Genetic Variants of Interest
Contact

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