1/15. 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 = hypertelorism (Clic here for more details about this article) |
2/15. Ophthalmic features of chromosome deletion 4p- (wolf-hirschhorn syndrome).By using the Giemsa banding technique we identified three patients with chromosome deletion 4p-. All had anterior segment anomalies, exotropia, blepharoptosis, antimongoloid palpebral fissures, hypertelorism, and disk abnormalities. One patient (Case 1) had Rieger's anomaly. Some clinical features in patients with 4p- are similar to those in patients with chromosome deletion 5p-, cri-du-chat syndrome, although 4p- individuals do not have the distinctive cry. The ocular features which distinguish 4p- from other deletions include normal tearing, some degree of blepharoptosis, and the preponderance of anterior segment signs.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/15. A new familial syndrome with facial abnormalities, abnormal EEG, and mental retardation.Two sisters are reported with up-slanting palpebral fissures, hypertelorism, ptosis, a broad, bifid nasal tip, a high-arched palate, mental retardation, abnormal EEG and hand malformations in one of the patients. The girls' parents originate from the same village. Although the findings resemble the recently defined neurofaciodigitorenal syndrome, some findings suggest that this is a newly recognized syndrome.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/15. A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid.blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) is an autosomal dominant disorder characterized by abnormalities of the eyelids. We herein report a 12-year-old girl with BPES who had bilateral blepharophimosis, ptosis, hypertelorism, and downslanting palpebral fissures. mutation analysis revealed the insertion of a cytosine (dup 1036C) within a wild-type run of six cytosines. A comparison of the phenotypic outcomes of the previously described mutations and the dup 1036C mutation reported herein suggest that the outcome is largely dependent on the involvement of the polyalanine tract (residues 221 to 231). We suggest that the polyalanine tract may have a differential role in eyelid and ovarian development and function. Further work is required to clarify whether ovarian function can be predicted on the basis of genotype.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
5/15. A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly.Congenital double lip is an uncommon developmental abnormality usually affecting the upper lip. We report a 21-year-old male with double upper and lower lip, hypertelorism, unilateral ptosis, blepharophimosis, and broad nose with broad nasal tip, highly arched palate, and bilateral third finger clinodactyly. The disorder differs from Ascher syndrome and appears to represent a newly recognized syndrome.- - - - - - - - - - ranking = 5keywords = hypertelorism (Clic here for more details about this article) |
6/15. hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia.We report a 30-year-old woman with hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy (DRE, Lennox-Gastaut syndrome), mental delay, growth deficiency, ectodermal defects, and osteopenia. To the best of our knowledge, this patient has an unusual combination of symptoms not previously described, associated with severe central nervous system dysfunction. The ectodermal defects were present in a very intriguing form, were difficult to diagnose, and did not conform to any classification or previous description.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
7/15. The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature.The syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the Baraitser-Winter syndrome, originally was described in a brother and sister and in an unrelated girl in 1988. Six additional individuals with a similar phenotype have been reported in the world literature. microphthalmos, microcornea, and brain malformations were added to the phenotypic spectrum of this syndrome in 1995. We report a child who presented with the aforementioned findings. Eye examination revealed bilateral microphthalmos and typical iris, optic nerve, and choroidal colobomas. magnetic resonance imaging of the brain demonstrated pachygyria and cortical atrophy.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
8/15. iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.A patient with a phenotype resembling that of three children recently reported is described. His karyotype shows a pericentric inversion of chromosome 2, very similar to another child previously reported. We discuss the possibility that all these cases constitute a distinct syndrome.- - - - - - - - - - ranking = 4keywords = hypertelorism (Clic here for more details about this article) |
9/15. Ocular and systemic findings in the Aarskog (facial-digital-genital) syndrome.The Aarskog (facial-digital-genital) syndrome is an X-linked disorder in which short stature is accompanied by hypertelorism, digital anomalies, and shawl scrotum. Except for hypertelorism and blepharoptosis, ophthalmic abnormalities have been rarely noted in this condition. We examined four patients who had Aarskog syndrome and unilaterally or bilaterally decreased vision on initial examination. Three family members had V-pattern esotropia, latent nystagmus, inferior oblique overaction, and amblyopia. A fourth patient had bilateral blepharoptosis and severe astigmatism. Other ocular features included hyperopia, anisometropia, deficient ocular elevation, blue sclerae, and posterior embryotoxon. These findings underscore the need for ophthalmic examination in asymptomatic patients with Aarskog syndrome to rule out treatable causes of visual loss.- - - - - - - - - - ranking = 2keywords = hypertelorism (Clic here for more details about this article) |
10/15. An autosomal recessive disorder with retardation of growth, mental deficiency, ptosis, pectus excavatum and camptodactyly.Two strikingly similar brothers issued from consanguineous parents in the second degree present the following patterns of anomalies: retardation of growth, mental deficiency, ocular abnormalities, pectus excavatum and camptodactyly. The ocular abnormalities include ptosis, microphthalmia and hypertelorism. No endocrine or metabolic aberrations were found. The authors conclude that the disorder has probably an autosomal recessive mode of transmission.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
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