1/49. Multiple systemic and periocular malformations associated with the fetal hydantoin syndrome.anticonvulsants remain necessary during pregnancy and the removal of such drugs is not recommended. However, on the available evidence, the physician may expect an increased risk of malformation including eye abnormalities as has been outlined. The abnormalities include growth deficiencies and delayed motor/mental development together with dysmorphic features, the most common of which seems to be cleft lip/cleft palate. Additionally, many of these children suffer from eye abnormalities including hypertelorism, ptosis, strabismus, epicanthal folds, and in this case abnormalities of the lacrimal apparatus.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
2/49. Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up.Galactosialidosis (GS) is an autosomal recessive condition caused by combined deficiency of the lysosomal enzymes beta-galactosidase and alpha-neuraminidase. The combined deficiency has been found to result from a defect in protective protein/cathepsin a (PPCA), an intralysosomal protein which protects these enzymes from premature proteolytic processing. The most severe form of GS, the early-infantile form, results in early onset of edema, ascites, visceromegaly, and skeletal dysplasia. We report a case of early-infantile GS in a male infant who presented with nonimmune fetal hydrops (NIH), "coarse" facial appearance, massive fluid-filled inguinal hernias, multiple telangiectasia, and diffuse hypopigmentation; he subsequently developed visceromegaly. The diagnosis of GS was confirmed biochemically and the defect in PPCA characterized at the protein level. Examination of fetal peripheral blood smears sampled at 30 weeks gestation demonstrated vacuolation of lymphocytes, suggesting blood film examination may be a useful screening tool for cases of NIH where a metabolic disorder is suspected. Skeletal radiography at birth demonstrated punctate epiphyses of the femora, calcanei, and sacrum. We present a discussion of and differential diagnosis for this radiographic finding. To the best of our knowledge, this is the first case of early-infantile GS presenting with stippled epiphyses.- - - - - - - - - - ranking = 4.6045294519135keywords = gestation (Clic here for more details about this article) |
3/49. Intrauterine exposure to clomiphene and neonatal persistent hyperplastic primary vitreous.A 4-year-and-10-month-old girl was diagnosed shortly after birth with persistent hyperplastic primary vitreous (PHPV). Her mother took clomiphene 100 mg daily for approximately 4 weeks and discontinued the drug once she had a positive pregnancy test. The exact time of gestation was not clear. clomiphene is an estrogen antagonist effective in the treatment of anovulation. Various ocular side effects have been described in women taking the drug, including decreased vision, mydriasis, flashing lights, central scotoma, photophobia, diplopia, allergic reactions, retinal vasospasms, detachment posterior vitreous, and possibly posterior subcapsular cataracts. These occur in 1.5-10% of patients taking clomiphene. The potential effects of clomiphene on the fetus have been investigated in five animal studies. Cataracts were observed in fetal mice and rats, but not in monkeys. In humans, a case of congenital retinal aplasia was described. The possibility of clomiphene-induced congenital PHPV should be considered, especially in pregnant women who are taking a high and prolonged dose.- - - - - - - - - - ranking = 5.6045294519135keywords = gestation, pregnancy (Clic here for more details about this article) |
4/49. prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia.We report the prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly, alobar holoprosencephaly and cyclopia. A 26-year-old primigravida woman was referred for genetic counselling at 23 gestational weeks due to sonographic findings of intra-uterine growth retardation and cranio-facial abnormalities. Level II ultrasonograms further demonstrated alobar holoprosencephaly, a proboscis above the eye and a single median orbit consistent with cyclopia. Genetic analysis and fluorescence in situ hybridization on cells obtained from amniocentesis showed distal 3p trisomy (3p23-->pter) and 7q36 deletion, 46,XX,der(7)t(3;7)(p23;q36), resulting from a paternal t(3;7) reciprocal translocation. The pregnancy was terminated. autopsy further confirmed the presence of arrhinencephaly, agenesis of the corpus callosum and a single ventricle of the brain. The phenotype of this antenatally diagnosed case is compared with those observed in 10 previously reported cases with simultaneous occurrence of partial trisomy 3p and terminal deletion 7q. All cases are associated with severe forms of holoprosencephaly and facial dysmorphism. This delineates an autosomal imbalance syndrome or a dosage effect involving duplication of distal 3p/deficiency of terminal 7q and dysmorphogenesis of the forebrain and mid-face.- - - - - - - - - - ranking = 5.6045294519135keywords = gestation, pregnancy (Clic here for more details about this article) |
5/49. Vogt-Koyanagi-Harada syndrome in a pregnant patient treated with high-dose systemic corticosteroids.PURPOSE: Vogt-Koyanagi-Harada (VKH) syndrome is usually treated with high-dose systemic corticosteroids. However, in a pregnant patient with VKH syndrome, the effects of high-dose corticosteroids on the fetus are controversial. We discuss treating VKH syndrome during pregnancy, systemic corticosteroids, and abnormalities in the delivered infant. methods: Case report and literature review. RESULTS: A 26-year-old Japanese woman in the 16th week of gestation was diagnosed with VKH syndrome and treated with high-dose systemic prednisolone after the 18th week of gestation. Although the patient's ocular findings gradually improved, a low-birth-weight infant was delivered with epibulbar dermoid, lipodermoids, and preauricular appendages. Although low birth weight might result from systemic prednisolone administration, the anomalies of the infant may have been inherited rather than caused by VKH syndrome and high-dose systemic corticosteroid administration. CONCLUSION: In this case and previously reported cases, VKH syndrome and systemic corticosteroids administered during pregnancy may not precipitate abortion and congenital malformation.- - - - - - - - - - ranking = 11.209058903827keywords = gestation, pregnancy (Clic here for more details about this article) |
6/49. Congenital varicella syndrome in the absence of cutaneous lesions.A case of congenital varicella syndrome characterized by intrauterine growth retardation, ocular and neurologic abnormalities, but no cutaneous lesions is reported. This case highlights the risk of embryopathy from varicella infection during pregnancy in non-immune women.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
7/49. A case of walker-warburg syndrome.walker-warburg syndrome (WWS) is an autosomal recessive disorder characterized by type II lissencephaly, cerebellar and retinal anomalies, and congenital muscular dystrophy. We report a female diagnosed with WWS based on clinical criteria. This patient was found to have fetal hydrocephalus on ultrasonography at 29 weeks of gestation, and exhibited severe hypotonia, ocular malformations, and hydrocephalus at birth. MRI revealed type II lissencephaly, hydrocephalus, and other severe brain malformations. Genetic analysis was performed to distinguish WWS from severe Fukuyama-type congenital muscular dystrophy (FCMD), which has numerous findings in common. This revealed no expression of the founder haplotype or single-stranded conformation polymorphism (SSCP) abnormalities. Since the life expectancy of patients with FCMD is longer, differential diagnosis should be performed precisely.- - - - - - - - - - ranking = 4.6045294519135keywords = gestation (Clic here for more details about this article) |
8/49. Ocular findings in Fryns syndrome.PURPOSE: To demonstrate the ocular histopathologic findings in Fryns syndrome, a multiple congenital anomaly syndrome, with characteristic features including Dandy-Walker malformation, cleft palate, diaphragmatic hernia, lung hypoplasia, distal limb anomalies and polyhydramnios. The prevalence is about 0.7 per 10,000 births. Reported ocular features include microphthalmus, "cloudy cornea", irregularities of Bowman's layer, thickened posterior lens capsule and retinal dysplasia. methods: Case report. The ocular histopathologic and ultrastructural findings in a male fetus with Fryns syndrome who died immediately after his birth at 26th week of gestation are shown. RESULTS: An abnormal Descemet's membrane was found in addition to "cloudy corneae". Electron microscopy demonstrated absence of the banded collagen fibrils in Descemet's membrane, indicating corneal endothelial dysfunction. Otherwise, the eye was morphologically normal for its age; none of the other reported ocular features of Fryns syndrome were found. CONCLUSION: Corneal endothelial dysfunction might cause abnormal composition of anterior Descemet's membrane and could contribute to the "cloudy cornea" known to occur in Fryns syndrome.- - - - - - - - - - ranking = 4.6045294519135keywords = gestation (Clic here for more details about this article) |
9/49. Case of complex craniofacial anomalies, bilateral nasal proboscides, palatal pituitary, upper limbs reduction, and amnion rupture sequence: disorganization phenotype?We report a case of a dizygotic twin with complex abnormalities of head, body, and limbs. The anomalies include the following: lateral and midline cleft upper lip, ectopic palatal pituitary, natal teeth, bilateral nasal proboscides with an absent nose, left microphthalmia with conjunctival-lined cyst, right ocular dysgenesis, bilateral retinal dysplasia, platybasia with skull asymmetry, hydrocephalus secondary to aqueductal atresia, brain hemispheric asymmetry with a parietal-occipital cortical flap, agenesis of posterior corpus callosum, absence of the olfactory nerves and left anterior cerebral artery, leptomeningeal and intraventricular heterotopias, right radial longitudinal terminal meromelia with constriction rings of fingers, partial syndactyly of the third and fourth left fingers, dorsiflexed great toes and pes equinovarus bilaterally, and multiple skin tags with a sacral appendage. Additionally, this twin's placental disc and extraplacental membranes were devoid of amnion. We regard these anomalies as a possible expression of the human homologue of the disorganization phenotype or another gene mutation. Nevertheless, an abnormality of blastogenesis with early damage to organizing tissues of the frontonasal region and limbs, or a vascular disruption, cannot be excluded. Early amnion rupture sequence (possible extraamniotic pregnancy with amniotic bands, limb reduction defects with Streeter bands, and multiple skin tags tapering into amniotic bands) was also present in this case, and may have acted as a contributing factor.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
10/49. Ocular findings in anencephaly.We found an upper eyelid notch and posterior pole lens in a newborn anencephalic infant. An analysis of the development of the affected tissues helped localize the insult at the fifth to tenth week of gestation, probably close to the fifth week.- - - - - - - - - - ranking = 4.6045294519135keywords = gestation (Clic here for more details about this article) |
| | Next -> |