research New familial association between ocular coloboma and loose anagen syndrome
This report describes two siblings with a new familial association of loose anagen syndrome and ocular coloboma, despite unaffected parents and no family history.
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5 / 1000+ results research A case of encephalocraniocutaneous lipomatosis
This case report describes a young man diagnosed with encephalocraniocutaneous lipomatosis who had unique bilateral optic disc colobomas, a previously unreported association with this syndrome.
research Ocular manifestations in a case of Kallmann syndrome – An interesting case report on isolated gonadotropin-releasing hormone deficiency
This report details the clinical presentation of an 18-year-old female with Kallmann syndrome, noting her ocular issues and differences in sexual development. The researchers treated her eye conditions cosmetically with superficial keratectomy and amniotic membrane graft, followed by corneal tattooing and strabismus correction.
research Síndrome dos cabelos anágenos frouxos associada à distrofia macular: descrição de uma família
This study describes a family with loose anagen hair syndrome associated with macular dystrophy, suggesting this combination may represent a new disease entity among ectodermal dysplasias.
research Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome
This study details the successfully treated case of a 16-year-old girl with congenital alopecia due to encephalocraniocutaneous lipomatosis, resulting in high patient satisfaction after hair restoration.
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