microphthalmos/seizures

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Persistent tachycardia, paroxymal hypertension, and seizures: association with hyperglycinuria, dominantly inherited microphthalmia, and cataracts.

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Effects of the microphthalmic white gene on audiogenic seizure susceptibility in mice.

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Audiogenic seizure susceptibility was studied in mice segregating for the microphthalmic white gene (Miwh). Previous work by Deol had indicated that mice with either one or two Miwh alleles had severe inner ear defects. A congenic inbred strain provided mice that were identical in genetic background

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.

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Microphthalmia is an important developmental eye disorder. Although mutations in several genes have been linked to this condition, they only account for a minority of cases. We performed autozygome analysis and exome sequencing on a multiplex consanguineous family in which colobomatous

Microphthalmia and brain atrophy: a novel neurodegenerative disease.

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OBJECTIVE To delineate the features of a novel neurodegenerative disease. METHODS We report three children of three related families with congenital microphthalmia and blindness, and progressive spasticity, microcephaly, seizures, and profound mental retardation. RESULTS A magnetic resonance imaging

Retinoblastoma, microphthalmia, coloboma, and neuroepithelioma of the pineal body.

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A one-month-old infant boy was examined early in life because his mother had bilateral retinoblastoma and his father had bilateral microphthalmia. The ophthalmologist found his right eye was normal size with a coloboma of the iris, choroid, and retina. The left eye was microphthalmic with a coloboma

[A case of severe mental retardation with blepharophimosis, ptosis, microphthalmia, microcephalus, hypogonadism and short stature--the difference from Ohdo blepharophimosis syndrome].

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We report a case of 13-year-old girl with short stature, microcephalus, blepharophimosis, ptosis, bilateral microphthalmia (more prominent in the right), hypogonadism, other minor anomalies, and severe mental retardation. Her mother had two spontaneous abortions. She was born as the second baby of

Microphthalmia with linear skin defects: a case report and review.

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Microphthalmia with linear skin defects syndrome is an X-linked dominant disorder characterized by microphthalmia and other ocular anomalies as well as linear, jagged skin defects typically involving the scalp, face, neck, and upper trunk. Other associated characteristics include short stature,

Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization.

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We present a 4-year-old girl with a maternally derived, unbalanced X;3 translocation resulting in partial Xp monosomy and partial 3p trisomy. She had chorioretinal defects, developmental delay, infantile seizures, and microphthalmia. These findings initially suggested a diagnosis of Aicardi

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

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Anophthalmia/microphthalmia (A/M) is a genetically heterogeneous birth defect for which the etiology is unknown in more than 50% of patients. We used exome sequencing with the ACE Exome(TM) (Personalis, Inc; 18 cases) and UCSF Genomics Core (21 cases) to sequence 28 patients with A/M and four

A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.

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BACKGROUND Lenz microphthalmia syndrome (LMS) is a genetically heterogeneous X-linked disorder characterised by microphthalmia/anophthalmia, skeletal abnormalities, genitourinary malformations, and anomalies of the digits, ears, and teeth. Intellectual disability and seizure disorders are seen in

Ophthalmic features of hypoparathyroidism-retardation-dysmorphism.

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Hypoparathyroidism-retardation-dysmorphism (HRD; Sanjad-Sakati Syndrome; Online Mendelian Inheritance in Man [OMIM] #241410) is a rare recessive syndrome predominantly seen on the Arabian Peninsula and characterized by congenital hypoparathyroidism, intrauterine growth retardation, mental

Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome.

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We describe a 20-year-old 46,XY woman, with clinical findings of Fraser syndrome and three mitochondrial DNA (mtDNA) mutations of Leber hereditary optic neuropathy. The patient had microphthalmia, blindness, widely spaced nipples, bifid ureter, syndactyly of the toes, and mental retardation.

Oculocerebrocutaneous syndrome: report of three additional cases and aetiological considerations.

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The oculocerebrocutaneous (OCC) syndrome is characterized by the presence of orbital cysts and microphthalmia/anophthalmia, focal hypo- and aplastic skin defects, skin appendages and cerebral malformations. Most of the patients suffer from psychomotor retardation and seizures. To date, 23 patients

Ocular manifestations in Wolf-Hirschhorn syndrome.

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BACKGROUND Wolf-Hirschhorn syndrome (WHS) multiple congenital anomalies/mental retardation is caused by partial deletion of the short arm of chromosome 4 and can be considered a contiguous gene syndrome, characterized by typical facial appearance, mental retardation, growth delay, and

[Intrauterine herpes simplex virus infection].

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BACKGROUND Early fetal herpes simplex virus (HSV) infection is rarely documented. Only the minority of affected fetuses survive this condition. METHODS At 19 weeks of gestation the first episode of a genital HSV-infection of a pregnant woman was treated with local interferon beta. At 34 weeks of

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