| Phenotype details |
last assessment middle childhood; height -1.95 SD, OFC -1.08 SD; no microcephaly; borderline short stature; walking not yet achieved; intellectual disability; developmental delay; speech not yet achieved; no seizures/epilepsy; hypotonia diagnosed during infancy; generalized joint hypermobility with subluxation of fingers at MCP joints, hindfoot deformity with hypermobility; dyspraxia suspected during infancy, Stereotypic movements, Non-purposeful movements of arms and legs with limb stiffening; cortical visual impairment, foveal hypoplasia, bilateral astigmatism, coloboma of left optic nerve, bilateral strabismus, intermittent esotropia; history of recurrent otitis media up to middle childhood, abnormal hearing test as a toddler, PE tubes in early childhood, persistent middle ear effusion; distinct: brachycephaly, prominent forehead, temporal receding of scalp hair, mild midfacial hypoplasia, deep set eyes, prominent nasal bridge, high arched palate (mild), small teeth; constipation diagnosed during infancy, G-tube during middle childhood; no autism spectrum disorder, inappropriate laughter at times, self-stimulatory movement (rocking- hand flapping, head banging, wakes up screaming at night; failure to thrive; no sleeping difficulties; hindfoot deformity with hypermobility, mild pectus excavatum; high pain tolerance, pneumonia(3 to 4 times), urinary reflux (grade iii/iv), trimethoprim prophylaxis started during infancy, skin translucency, peanut allergy, undescended genitalia, intrauterine growth restriction; MRI brain mild-moderate bifrontal cerebral atrophy with enlarged frontal horns of lateral ventricles, Some diffuse brainstem atrophy is likely present as well, Abnormal optic global structures bilaterally; Abnormal 24h EEG during middle childhood, no seizures; no cardiac abnormalities |
