geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Two sib cases of Leber congenital amaurosis with cerebellar vermis hypoplasia and multiple systemic anomalies


, : Two sib cases of Leber congenital amaurosis with cerebellar vermis hypoplasia and multiple systemic anomalies. American Journal of Medical Genetics 78(5): 429-432, Aug 6

Leber's congenital amaurosis (LCA), a type of congenital blindness, is clinically and genetically heterogeneous and often associated with systemic anomalies. We report on two sisters who were born to a consanguineous couple and had retinitis pigmentosa-like pigmented retinal lesions, alternating exotropia, bilateral cataracts, and anomalous coarse facies characterized by deformed skull with narrow forehead, low anterior hairline, hypertelorism, short philtrum, thin upper lip, and prominent jaw; cerebellar vermis hypoplasia; dilatation of the fourth ventricle; severe mental retardation; tremor; brisk deep tendon reflexes and abnormal behavior; and skeletal abnormalities such as limited extension of elbow and/ or finger joints and talipes equinovalgus. Skin defect and renal anomalies were seen in only one patient. Our patients are the first familial LCA associated with cerebellar vermis hypoplasia, and the disease involving particular multiple systemic anomalies may represent a distinct clinical entity.

US$19.90

PMID: 9714009

DOI: 10.1002/(sici)1096-8628(19980806)78:5<429::aid-ajmg7>3.0.co;2-g


Other references

Muller, T.; Binder, T.; Varadi, B.; Horn, P.; Bercsenyi, M., 2002: Artificial induction of sexual maturation in the European eel males (Anguilla anguilla L.) (Preliminary results). A total of 14 European eels (A. anguilla, 3-years-old and 123.5+or-23.9 g body weight) in Hungary were divided into 2 groups wherein 7 fishes (Group 1) were each given 250 IU HCG and 1000 ICU 3 weeks later. The other group (Group 2) each received...

López, A.C.; Alippi, A.M., 2007: Phenotypic and genotypic diversity of Bacillus cereus isolates recovered from honey. Of 433 honey samples collected in Argentina, 114 (27%) yielded Bacillus cereus isolates (27%) and 60 (14%) yielded other species of Bacillus. The Argentinian B. cereus isolates were compared with isolates recovered from honey from other countries...

Kruyt, M.C.; Persson, C.; Johansson, G.; Dhert, W.J.A.; de Bruijn, J.D., 2006: Towards injectable cell-based tissue-engineered bone: the effect of different calcium phosphate microparticles and pre-culturing. Bone tissue engineering by combining bone marrow stromal cells (BMSCs) with a porous scaffold is a promising technology. Current major challenges are to upscale the technique for clinical application and to improve the handling characteristics. Wi...

Cohn, J.A.; Large, M.C.; Richards, K.A.; Steinberg, G.D.; Bales, G.T., 2014: Cystectomy and urinary diversion as management of treatment-refractory benign disease: the impact of preoperative urological conditions on perioperative outcomes. To investigate perioperative outcomes associated with cystectomy and urinary diversion for treatment-refractory benign urological disease. A cohort of patients who underwent cystectomy for infection, fistula, bleeding, incontinence, neurogenic bla...

Enslin, E., 1921: Die Irrtumer der These einer wiederkehrenden terziarzeitahnlichen Tierlebensperiode. Entomologische Zeitschrift Frankfurt a M: 35: 5-6, 10-11, 14, 18-19, 22, 26-27, 30-31

Toda, N.; Ayajiki, K., 1990: Cholinergic prejunctional inhibition of vasodilator nerve function in bovine basilar arteries. Helical strips of bovine basilar arteries responded to transmural electrical stimulation with moderate relaxations that were abolished by treatment with tetrodotoxin and oxyhemoglobin and were significantly attenuated by quinidine, as were the rel...

Schmidt, Robert E., 1999: The avian liver in health and disease. Unknown

Vandenberg, N.; Gordon, R.D., 1988: The coccinellidae coleoptera of south america part i. a revision of the genus erythroneda timberlake 1943. The taxonomic and nomenclatural history of the genus Erythroneda Timberlake is reviewed. A total of four species are recognized, incuding two new species, E. linda, sp. n. and E. bugaboo, sp. n. Cycloneda corallina Weise is transferred to Erythron...

Lawrynowicz, Maria, 2002: Kingdom of fungi on the turn of millenia. An outline of the history of mycology since the ancient times until 2000 is presented in the article. Entomycological point of view and scientific interpretation of fungi on cellular and molecular level are indicated. Discovering of penicillin and...

Winter, J.; Atherton, R., 1982: A new collection of the Papuan sheath-tail bat, Taphozous mixtus, in Australia. Australian Bat Research News, 2pp. No. 18