| Phenotype details |
see paper; ..., FFL; Infantile hypotonia; normal hearing; normal vision; gait not spastic but significant genu recurvatum and progressive kyphosis, 18y-no evidence movement disorder or progressive spasticity; delayed speech, 7y-regression lost all words; autism spectrum disorder, attention deficit hyperactivity disorder, hyperkinesis, inattention, impulsiveness, obsessiveness, anger outbursts; anxiety, depression, bipolar disorder; no seizures; EEG childhood normal (2x); MRI brain 8y-11y6m-abnormal, non-specific bilateral small punctate frontal white matter hyperintensities, mildly prominent perivascular spaces, proton spectroscopy non specific, no lactate, 11y6m-corpus callosum slightly bulky; weight <3rd centile (45.6kg at age 18 years); height 50th-75th centile; OFC 10-50th centile; long lean face, long nose, mildly anteverted ears, prominent chin, pre-auricular pit at base of l helix, progressive squaring of chin with age; pica, constipation with fecal loading, poor appetite and limited diet (required iron transfusion); progressive kyphosis of thoracic and lumbar spine. mild anterior wedging of several thoracic bodies, no osteopenia or fractures. leg length discrepancy. fifth finger pip joint camptodactyly, mild pectus excavatum, severe thoracolumbar kyphosis with leg length discrepancy, very thin habitus with long arms and legs. |
