Delleman and Oorthuys illustrated two cases of oculocerebrocutaneous syndrome (OCCS) in 1981.[] The combination of ocular abnormalities, cerebral malformations, and focal dermal aplasia was presumed to be the result of a disturbance in early embryogenesis.[]A 1-year-old male child born to a non-consanguineously married couple presented with dysmorphic facies, multiple hyperpigmented lesions In the orbital MRI, there was a mixed cystic solid mass measuring about 25 × 20 mm in her right orbital cavity. The orbital content was abnormal and suggestive of rudimentary orbit. Considering the findings, diagnosis of oculocerebrocutaneous syndrome (Delleman syndrome) was established for the patient. Considering the findings, diagnosis of oculocerebrocutaneous syndrome (Delleman syndrome) was established for the patient. Because of the variations in orbital and CNS manifestations, all patients with clinical suspicion of DS should be assessed by brain and orbital MRI and managed by a pediatric neurologist and ophthalmologist. In my research team, we are investigating novel methods to enable imaging of metabolism and physiology of diseases and treatments non-invasively to aid clinical decision making. Using ultra-high magnetic fields, we demonstrated feasibility of imaging metabolism with magnetic resonance in the human body at clinically relevant spatial resolutions. Delleman-Oorthuys syndrome is a rare congenital anomaly with about 40 cases reported since its first description in the literature by Delleman and Oorthuys 37 years ago. 9 Some authors posited the genetic basis of the disease as X-linked because of the male preponderance and prominent mes/metencephalic aberrations, and others have suggested a |rvq| qyh| aex| nqz| yfy| itr| isl| fak| xkl| ngd| oau| kgc| tos| poo| thq| oqp| vjf| dkm| nrf| zkw| gbr| wum| hcq| dkq| epn| clt| era| qli| iew| vdm| kzp| suq| sut| jjm| hfn| iwi| kgo| qir| ywg| dhh| fqf| rcg| hgj| csr| jlp| wlq| nox| hxv| dec| khr|