11/12. Generalized osteoporosis in a patient with oculocutaneous hypopigmentation syndrome (OOCHS), without cerebral defects. A new syndrome?An 8-year-old male patient presented a unique pattern of congenital anomalies. Prominent findings included a combination of severe osteoporosis and congenital oculocutaneous hypopigmentation. The patient may represent a hitherto undescribed syndrome of unknown etiology.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
12/12. Hereditary external ophthalmoplegia synergistic divergence, jaw winking, and oculocutaneous hypopigmentation: a congenital fibrosis syndrome caused by deficient innervation to extraocular muscles.BACKGROUND: The congenital fibrosis syndrome is a hereditary form of external ophthalmoplegia that is considered to be a primary myopathy. PURPOSE: To document the coexistence of two distinct forms of ocular motor synkinesis in a subgroup of patients with congenital fibrosis syndrome. methods: Clinical and intraoperative examination results and extraocular muscle biopsy specimens from four patients with congenital fibrosis syndrome were studied. RESULTS: Three patients displayed a variant of synergistic divergence characterized by simultaneous abduction with intorsion and depression of the synkinetically abducting eye. Three patients had variant of Marcus Gunn jaw winking characterized by elevation of a ptotic eyelid during mouth opening. Three patients had oculocutaneous hypopigmentation. CONCLUSIONS: A subgroup of patients with congenital fibrosis syndrome display two distinct synkinetic ocular movements in conjunction with oculocutaneous hypopigmentation. The patterns of neuronal misdirection implicate a regional innervational disturbance involving cranial nerves III through VI as the underlying cause of diffuse hereditary ophthalmoplegia in these patients.- - - - - - - - - - ranking = 1.2keywords = hypopigmentation (Clic here for more details about this article) |
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