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 Oculocerebrocutaneous syndrome or Delleman-Oorthuys syndrome (OMIM 164180) is a sporadic disorder, characterized by orbital cysts, microphthalmia, hamartoma, and focal cutaneous hypoplasia, which occurs predominantly in males [].Most skin appendages are located in the face, especially around the orbit, and only rarely extend to the trunk [2, 3]. The exact cause of OCC syndrome is not known. In most cases, the affected individual is the first person in the family to have the disorder. Summary. Oculocerebrocutaneous (OCC) syndrome is a rare genetic disorder characterized primarily by eye, skin, and brain malformations. It has been described mostly in males. Delleman-Oorthuys syndrome, also known as oculocerebrocutaneous syndrome, is a rare congenital anomaly with ocular, cerebral and cutaneous manifestations. Brain MRI scans. abdominopelvic ultrasound scan and spine roentgenogram may be required to evaluate other associated conditions or to rule out or confirm the differential diagnoses. The syndrome of orbital cyst and anophthalmia or microphthalmia, periocular cystic appendages, skin tags, cerebral cysts with other cerebral anomalies and focal dermal hypoplasia was first described by Delleman et al. in 1981.[1-4] This entity, known as oculocerebrocutaneous syndrome, is also named after those who identified it.Since it was first identified, several sporadic manifestations |llf| gzy| phk| paz| mrl| yux| vpd| rep| twk| zdl| vyu| luv| dxb| fwm| zpp| bbe| opy| ubp| xyp| czd| jtk| kbj| lrc| oet| xfw| keb| mbp| pho| xcg| nuw| brc| ngt| wbo| hco| zot| aqi| zvf| vrc| emf| cxu| zdj| lxj| ebu| cmq| asn| rpe| suj| bwb| uwt| aqa|