1/34. syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification.We present two sisters with microcephaly, developmental delay, marked microphthalmia, congenital cataracts, cerebral and cerebellar hypoplasia, and intracranial calcification. No evidence of intrauterine infection was found. There have been previous reports of microcephaly, intracranial calcification, and an intrauterine infection-like autosomal recessive condition, but the sibs in this report appear to represent a more severe form of such a condition or a previously undescribed entity.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
2/34. Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: association or new syndrome?We report on a 3.5-year-old girl with microcephaly, microphthalmia, coloboma of the iris, mild developmental delay, and other minor anomalies. neuroimaging showed marked cerebellar and vermian hypoplasia. This condition has not been described previously and is discussed in the context of the "micro syndrome," together with other similar syndromes. Our case highlights the heterogeneity of the "microphthalmia plus brain malformations" group of patients.- - - - - - - - - - ranking = 5keywords = hypoplasia (Clic here for more details about this article) |
3/34. Bilateral microphthalmos with colobomatous orbital cyst and de-novo balanced translocation t(3;5).A term Caucasian male infant, born to a healthy non-related couple, was noted at birth to have bilateral edema and bluish discoloration of the lower eyelids. On physical examination, the eye globes were not visualized and hypertelorism was noted. Radiological imaging revealed large bilateral orbital cysts, microphthalmos, and severe optic nerve hypoplasia. Histological study of the excised orbital masses showed cysts lined by primitive, immature retinal tissue which contained neuroglial elements and scattered dysplastic rosettes. Chromosome analysis revealed an apparent balanced reciprocal translocation between the long arm of chromosome 3 and 5, i.e. 46, XY, t (3; 5) (q27; q11.2).Chromosome studies in parents were normal. To our knowledge, the association of this balanced translocation and microphthalmos with cyst has not been previously described in the English literature.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
4/34. Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia.We report a boy, born to consanguineous patients, with agammaglobulinemia associated with multiple physical anomalies: mild intrauterine growth retardation, extreme microphthalmia (clinical anophthalmia), severe microcephaly, blepharophimosis, long face with temporal narrowing, scaphocephalic skull shape, posterior cleft palate, hypoplastic, adducted thumbs with small nails, and short, inward turned halluces with absent distal phalanges and nails. Psychomotor development was moderately delayed. No mutations were found in exons of BKT and PAX-5 genes. This unreported constellation could represent a novel, autosomal recessive syndrome.- - - - - - - - - - ranking = 4keywords = hypoplasia (Clic here for more details about this article) |
5/34. Five cases of microphthalmia with other ocular malformations.We report five cases of complex microphthalmia with other ocular malformations in infants or children, which were evaluated to investigate the relationship between the corneal diameters and total axial length. The size of the globe was measured by using computerized tomographic scans (CT scan), A-scan ultrasonography, or magnetic resonance imaging (MRI). There is a limited range of well-described malformation, including anterior or posterior segment dysgenesis or combined pathology such as corneal opacity, small cornea, iris hypoplasia, lens dislocation, cataract, chorioretinal coloboma, persistent hyperplastic primary vitreous (PHPV), retinal dysplasia, and intraocular tumor. Corneal diameters were correlated significantly with total axial length (r2 = 0.88) and decreased linearly as the total axial length decreased in these cases. However, there was no relationship seen between the total axial length and posterior segment length (r2 = -0.06). The results of this study may aid the clinical ophthalmologist to accurately understand or assess microphthamia combined with other ocular malformations.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
6/34. Adreno-leukodystrophy with microphthalmia. A condition marked by general organ hypoplasia.A 5-6/12 year old male child who was noted to have neurological impairment at birth, eventually died with widespread neurological disease. Pathological findings were compatible with adreno-leukodystrophy, but also showed microphthalmia and diffuse organ hypoplasia. A review of the clinical and pathological characteristics of adreno-leukodystrophy of previous cases and the current case suggests that the range of the disease spectrum may well involve most organs of the body. The possibility of an inherited membrane deficit is entertained.- - - - - - - - - - ranking = 5keywords = hypoplasia (Clic here for more details about this article) |
7/34. Bilateral ocular malformations in a newborn with normal karyotype: histologic findings.microphthalmos with cyst is a rare condition characterized by a small globe and an inferior uveoretinal coloboma. There is also a defect in the posterior aspect of the eye through which a cyst lined by neuroectodermically derived tissue protrudes into the orbit. A case of isolated bilateral colobomatous and cystic microphthalmos is reported in an otherwise healthy child, showing no evidence of chromosomal abnormalities. Microscopic findings in the enucleated eye consisted of iris and retinal dysgenesis, ectopia lentis, persistent anterior tunica vasculosa lentis and pupillary membrane, intrachoroidal smooth muscle, and optic nerve hypoplasia. In the orbital cyst, a thick membrane reminiscent of the retinal inner limiting membrane lay between the fibroadipose and vascularised outer wall and the inner neuroectodermal lining.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
8/34. Twin brothers with MIDAS syndrome and XX karyotype.Twin brothers with microphthalmia, facial dermal hypoplasia, sclerocornea, and supraventricular tachycardia, are reported. Their clinical features are compatible with MIDAS syndrome, a known X-linked and hemizygous male lethal condition. Their karyotypes showed an XX sex chromosome modality with a subtle Xp/Yp translocation proven by the presence of SRY gene. The pregnancy was complicated with fetal supraventricular tachycardia, which was treated with digoxin prenatally. Postnatally, both twins required treatment with adenosine, digoxin, and propanolol to remain in normal sinus rhythm. The possible involvement of the heart, only in the form of cardiomyopathy with arrhythmia is emphasized. Both twins had a selective X-inactivation of the derivative chromosome X with Xp/Yp translocation.- - - - - - - - - - ranking = 44.159158453119keywords = dermal hypoplasia, hypoplasia (Clic here for more details about this article) |
9/34. association of microphthalmia and esophageal atresia: description of a patient and review of the literature.Since 1988, when Rogers first described a boy with anophthalmia associated with esophageal atresia, eight similar cases have been reported. These patients lend support to the hypothesis that this association of congenital anomalies constitutes a discrete entity, although the etiology is still unknown.We report a patient with this combination of malformations as well as a marked hypoplasia of the entire left half of the body.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
10/34. Focal skin defect, limb anomalies and microphthalmia.We describe two unrelated female patients with congenital single focal skin defects, unilateral microphthalmia and limb anomalies. growth and psychomotor development were normal and no brain malformation was detected. Although eye and limb anomalies are commonly associated, clinical anophthalmia and limb defects have not been reported with single focal aplasia of the skin. The described features may be compatible with a mild phenotypic variant of Goltz syndrome or may represent a previously undescribed syndrome.- - - - - - - - - - ranking = 0.0045169431060241keywords = focal (Clic here for more details about this article) |
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