1/16. A case of recurrent congenital fetal anomalies associated with a familial subtelomeric translocation.The potential of a new fluorescent in situ hybridization technique is discussed, which uses a complete set of telomeric probes to reveal cryptic chromosome rearrangements that remain undetected by standard cytogenetic analysis. We report the obstetric history of a patient who had a termination of pregnancy at 20 weeks for a fetus with multiple congenital anomalies but a normal male karyotype using conventional G-banding analysis on a mid-trimester placental biopsy. In a subsequent pregnancy, a diaphragmatic hernia and intra-uterine growth restriction were detected at 34 weeks' gestation and a fetal blood sample showed a normal female karotype. However, her child was born with dysmorphic features and additional severe abnormalities including microcephaly, anophthalmos and left fixed talipes. The child has shown marked developmental delay. In view of a strong family history of congenital abnormalities and recurrent miscarriage suggestive of a familial translocation, a fluorescent in situ hybridization technique using specific telomeric probes was performed on blood from the affected child and her parents. An unbalanced subtelomeric translocation was detected involving the long arms of chromosomes 2 and 7 in the child and a balanced translocation was detected in her father. Accurate genetic counselling and the opportunity for early prenatal diagnosis can now be offered to this family.- - - - - - - - - - ranking = 1keywords = anophthalmos (Clic here for more details about this article) |
2/16. genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?Nonsyndromic congenital microphthalmia or anophthalmia is a heterogeneous malformation with autosomal dominant, autosomal recessive, and X-linked modes of inheritance. Lenz microphthalmia syndrome comprises microphthalmia with mental retardation, malformed ears, skeletal anomalies, and is inherited in an X-linked recessive pattern. Prior studies have shown linkage of both isolated (or nonsyndromic) anophthalmos (ANOP1, [MIM 301590]) and Lenz syndrome [MIM 309800] to Xq27-q28. Nonsyndromic colobomatous microphthalmia [MIM 300345] has been linked to Xp11.4-Xq11.1. We describe a five-generation African-American family with microphthalmia or anophthalmia, mental retardation, and urogenital anomalies, in an X-linked recessive inheritance pattern, consistent with Lenz syndrome. Initial linkage analysis with microsatellite markers excluded the region in Xq27-q28 previously reported as a candidate region for ANOP1 [MIM 301590]. An X-chromosome scan revealed linkage to a 10-cM region between markers DXS228 and DXS992 in Xp11.4-p21.2. Multipoint analysis gave a maximum lod score of 2.46 at marker DXS993. These data show that X-linked recessive syndromic microphthalmia exhibits genetic heterogeneity. In addition, it suggests that Lenz microphthalmia syndrome, previously thought to be a single disorder, may represent an amalgam of two distinct disorders.- - - - - - - - - - ranking = 1keywords = anophthalmos (Clic here for more details about this article) |
3/16. A case of angle-closure glaucoma, cataract, nanophthalmos and spherophakia in oculo-dento-digital syndrome.BACKGROUND: We report a new case of oculo-dento-digital syndrome. methods: Case report. RESULTS: We saw a 34-year-old women with oculo-dento-digital syndrome. visual acuity was no perception of light (RE) and 1/35 (LE). Biomicroscopy revealed a flat anterior chamber and an advanced cataract. The intraocular pressure (IOP) was 60 mmHg in both eyes. Ultrasonographic biomicroscopy demonstrated a closed chamber angle in both eyes. Measurements of the axial length and of the diameter of the lens were 18.7 mm/6.0 mm for the RE and 18.7 mm/5.8 mm for the LE respectively. In the time following we conducted a cyclodestructive procedure in the RE and a cataract extraction with implantation of an intraocular lens in the LE. This led to a considerable reduction of the IOP in the RE and combined with local therapy to IOP regulation in the LE. CONCLUSION: In this patient nanophthalmos, cataract and spherophakia led to angle-closure glaucoma in both eyes. We recommend early monitoring of IOP, axial length and lens diameter. This case demonstrates that an early cataract extraction might beneficially influence the natural course of the disease.- - - - - - - - - - ranking = 5keywords = anophthalmos (Clic here for more details about this article) |
4/16. Bilateral congenital anophthalmos and agenesis of the optic pathways.This report presents a rare example of a bilateral congenital anophthalmos and an agenesis of the optic pathways. The MR imaging studies revealed that the eyeballs, optic nerves, optic chiasm, optic tracts and optic radiation were absent. The chromosomal examination was normal. Mild mental retardation was also observed. Apart from the rarity of the anophthalmos and the total absence of the optic pathways, no etiologic reason for this pathology could be detected, which makes this case more significant.- - - - - - - - - - ranking = 6keywords = anophthalmos (Clic here for more details about this article) |
5/16. Congenital unilateral absence of orbit with anophthalmos and partial arhinia.Congenital unilateral absence of orbit is a very rare clinical entity. An 18 month old female child with an unilateral absence of orbit with clinical anophthalmos and partial arhinia is presented. X-ray of the skull revealed an absence of the bony orbit on the left side. Unlike previously described cases of absence of the orbit, this maldevelopment is unilateral and present in an otherwise normal thriving child.- - - - - - - - - - ranking = 5keywords = anophthalmos (Clic here for more details about this article) |
6/16. New observations on midline defects: coincidence of anophthalmos, microphthalmos and cryptophthalmos with hypothalamic disorders.Four children with severe congenital eye anomalies are described of which three had related symptoms. Two had bilateral anophthalmia, the optic nerves not detectable by computed cranial tomography and magnetic resonance imaging, and the third child had bilateral microphthalmia and coloboma iridis. The fourth patient had bilateral cryptophthalmia as part of fraser syndrome. All four patients were of small stature. In three of them growth hormone deficiency was demonstrated which was of hypothalamic origin as shown by growth hormone releasing hormone tests. In the fourth child hypogonadotropic hypogonadism and tertiary thyroid deficiency were diagnosed which responded well to thyroxine treatment. Pathogenetically the described disorders are due to congenital defects of midline structures as a common "developmental field".- - - - - - - - - - ranking = 4keywords = anophthalmos (Clic here for more details about this article) |
7/16. A rare patient with a false median cleft lip associated with multiple congenital anomalies.A girl manifesting a false median cleft lip associated with hypertelorism, anophthalmos, hydranencephaly with holoprosencephaly, and osteogenesis imperfecta, among other disorders, survived and was fed mainly milk products up to the age of 11. Then, surgical closure of the false median cleft lip was undertaken to improve the face aesthetically and to make the child more acceptable to society at large. The patient's median cerebrofacial dysgenesis with other anomalies was unique, compared with disorders reported in the literature. The embryological distinction between a false and true median cleft lip is also discussed.- - - - - - - - - - ranking = 1keywords = anophthalmos (Clic here for more details about this article) |
8/16. anophthalmos and first branchial arch defects.The association of unilateral mandibulofacial dysostosis and anophthalmos at the same side is reported. The proband presented at the age of six months with: right anophthalmos and hypoplasia of the orbit at the same side, hypoplasia of the right mandible and maxilla, right external ear deformity, cyanotic heart disease, hemivertebrae, cataract and corneal opacity in the left eye. This case shows the maximal effect of the abnormal development of the first branchial arch (the mandible, maxilla, and ears) on the globe and the orbit. The other end of the spectrum in which the minimal effect on the globe was present (unilateral absence of choriocapillaris and retinal pigment epithelium inferiorly) was reported by Cotlier & Alghadyan in 1981. This supports the concept that abnormal development of the mandible may influence the development of the orbit and the globe. The extent of the influence of the abnormal developing first branchial arch on the eye is discussed.- - - - - - - - - - ranking = 2keywords = anophthalmos (Clic here for more details about this article) |
9/16. Bilateral extreme microphthalmos.A case of bilateral extreme microphthalmos is reported. autopsy of a one-day-old full-term female revealed multiple congenital anomalies which included occipital encephalocele, cleft palate, hips which could not be abducted, long fingers and toes, and cardiovascular malformations. Chromosomal analysis showed a normal 46 XX karyotype. Ocular findings in this case included clinical anophthalmos with bilateral fused eyelids, optic nerve aplasia, absent cornea and lens, and retinal dysplasia. The distinctions between anophthalmos and varying degrees of microphthalmos are discussed. The insult causing abnormal development in this case appears to have occurred during the first trimester of pregnancy. There were no prenatal or delivery complications. A genetic abnormality was considered since two older siblings have birth defects. Also discussed is the possibility of a combined genetic and environmental etiology.- - - - - - - - - - ranking = 2keywords = anophthalmos (Clic here for more details about this article) |
10/16. Cryptophthalmos with an orbital cyst and profound mental and motor retardation.The cryptophthalmos syndrome generally consists of cryptophthalmia, dyscephaly (cleft lip and palate, nasal and ear defects, meningoencephaloceles, etc.), syndactyly, and urogenital malformations. This disorder is rare. Approximately 55 cases have been reported, with only a few described in the American literature. A three-year-old boy with this rare syndrome is described. Major clinical findings include: asymmetric bilateral cryptophthalmos, unilateral orbital cyst of the nasofrontal area, bilateral anophthalmos, right choanal atresia, right microtia, right auditory canal atresia, hypodontia, ankyloglossia, cartilaginous synchondroses of the cervical vertebrae, and bilateral acetabular dysplasia. Striking features of this case, in addition to the above, were profound mental and motor retardation. syndactyly and renal anomalies were not observed.- - - - - - - - - - ranking = 1keywords = anophthalmos (Clic here for more details about this article) |
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