Background: Oculo-palato-cerebral syndrome is an extremely rare condition characterized by various features, including low-birth weight, microcephaly, cerebral atrophy, mild-to-severe developmental delay, cleft palate, persistent hyperplastic primary vitreous, microphthalmia, small hands and feet, joint laxity, and large ears with thick helices. Diagnosis of this syndrome is based on the clinic...

OBJECTIVE To describe the clinical and genetic findings in a family with multiple cases of cavernous hemangiomas. DESIGN Investigational clinical and genetic study in which 3 generations of a family consisting of 12 members were screened with magnetic resonance brain imaging, dilated ophthalmoscopic examination, and cutaneous survey coupled with linkage analysis to determine affected individu...

In this article, the author updates information on cerebro-oculo-facio-skeletal (COFS) syndrome. The condition is rare, with autosomal recessive inheritance, and manifests abnormal facies, ocular changes (eg, cataracts, retinal degeneration, microcornea, optic atrophy), in utero and postnatal growth retardation, severe psychomotor retardation, cerebral and cerebellar degeneration with calcifica...

Incontinentia pigmenti (IP) is a complex genodermatosis inherited in an X-linked dominant pattern, associating multistadial cutaneous manifestations with an oculo-dento-cerebral syndrome, which affects only female newborns, as the disorder is lethal in males since intrauterine period. We report on a case of incontinentia pigmenti with an atypical debut consisting of tonic-clonic seizures which ...

mucormycosis is a serious fungal infection caused by the filamentous fungi of the mucorales order of the class of zygomycetes. mucormycosis is classically defined as an opportunistic fatal infection. in this report we explain a 49 years old woman with palato-orbital tract as a sequel of rhino cerebral mucormycosis and end stage renal disease candidate for kidney transplantation. difficulties in...

OBJECTIVE To study the clinical profile of young patients with uveal melanoma. DESIGN Retrospective case-control series. SETTING Tertiary referral center. PATIENTS Data on 63 patients aged 20 years or younger with uveal melanoma were reviewed for clinical profile and association with oculo(dermal) melanocytosis, familial uveal melanoma, dysplastic nevus syndrome, cutaneous melanoma, and o...