| overgroeisyndroom van Kosaki
syndroom van skeletale overgroei, craniofaciale dysmorfie, hyperelastische huid en wittestoflaesie
syndroom van overgroei van skelet, craniofaciale dysmorfie, hyperelastische huid en wittestofafwijking
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| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin), hyperelastic, thin, and fragile skin, lipodystrophy, and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation, and cerebrovascular complications, among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies. |
