Jul 15, 2020
The participant was born at 41 weeks after a pregnancy complicated by severe morning sickness (hyperemesis gravidarum) during the first 4-5 months. He was hospitalized at 40 days of life due to a fever, but no infection was identified.
Concerns about his delayed development were first raised around 8 months. He was able to roll and crawl at 18 months but then lost these skills around age 3 (progressive loss of gross motor skills). He then lost his ability to hold utensils at age 4 (progressive loss of fine motor skills).
The participant’s length gradually fell below the 5th percentile when he was 2 and 3 (proportionate short stature). When he was 4 years old, his weight percentile also fell.
The participant is currently 7 years old. He is nonverbal but is very social and makes good eye contact, laughs, and smiles. He can’t walk independently (non-ambulatory) and uses a wheelchair. The participant’s muscles are tight in his legs (increased muscle tone and spasticity) but has decreased muscle tone in his shoulders and waist (central hypotonia). He was also found to have skull abnormalities (brachycephaly).
Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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