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170 Possible Causes for Cornea, Male Sterility, Skeletal Dysplasia

  • Laurence Moon Syndrome

    Grand father had polydactyly, aunt (father's sister) had polydactyly with sterility.[] […] sequence Celosomial monster Cerebro-costo-mandibular syndrome Cerebrofacial dysplasia Cerebro-oculo-facio-skeletal syndrome Charge association Charge syndrome Child syndrome[] CORNEA GUTTATA DISTROFIA COMBINATA DELLA CORNEA DISTROFIA ENDOTELIALE DI FUCHS DISTROFIA CORNEALE ENDOTELIALE POSTERIORE POLIMORFA RF0280 CHERATOCONO RF0290 CONGIUNTIVITE[]

  • Noonan Syndrome

    […] experience infertility (sterility).[] Skeletal dysplasia was proven to be secondary to a disorder of RAS-mitogen activated protein kinase (MAPK) pathway which is essential for regulation of cell differentiation[] Br J Ophthalmol 1987, 71 : 235–8. 19 Bleshoy H : Sensitivity and neuropathology in the Keratoconic Cornea: PHD. City University, Northampton Square, London. 1990.[]

  • Prader-Willi Syndrome

    Only patients with an ultrasound, anteroposterior (AP) spine, AP abdomen, AP hip radiograph, and/or skeletal survey were included in the study.[] In 1976, physicians became aware that Creutzfeldt–Jakob disease could be transmitted by neurosurgical procedures and cornea transplantation.[] Occasional abnormalities Skeletal findings: Scoliosis, kyphosis and hip dysplasia.[]

  • Mucopolysaccharidosis 1S

    The 3D model was printed on a Makerbot Replicator 5X, sterilized ( Figure 1 ), and could be used for cell culture or in vitro release studies.[] Skeletal abnormalities include a bell-shaped chest, a flattening or curvature of the spine, shortened long bones, and dysplasia of the hips, knees, ankles, and wrists.[] Metabolic disorders of the cornea. In: Kaufman HE, Barron BA, McDonald MB, editors. The Cornea. 2 nd ed. Boston: Butterworth-Heinmann; 1998. p. 391-401. 9. Epstein RL.[]

  • Osteogenesis Imperfecta

    Transgenic mice with inactive alleles for procollagen N-proteinase (ADAMTS-2) develop fragile skin and male sterility. Biochem. J. 355, 271–278 (2001). 241. Weintrob, J.[] When a skeletal dysplasia is detected during the antenatal period, especially early in the pregnancy, it can be associated with a poor prognosis.[] Medical Center, Lebanon, New Hampshire. 2 Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts; Research Institute of Ophthalmology, Cairo, Egypt. 3 Cornea[]

  • Bloom Syndrome

    Clinical findings Pre- and postnatal growth deficiency, photosensitivity, benign and malignant tumours in childhood, male sterility, scattered skin lesions (facial telangiectasias[] CHST3 -Related Skeletal Dysplasia Andrea Superti-Furga and Sheila Unger. Initial Posting: September 1, 2011; Last Update: January 31, 2019.[] Facts About The Cornea and Corneal Disease. National Eye Institute (NEI). Last Update: May 2013. Available at: Accessed March 30, 2016.[]

  • Cockayne Syndrome

    Eye problems include retinal degeneration, optic nerve atrophy, sunken eyes, poor lid closure and drying of the cornea. The ears tend to be malformed with hearing loss.[] Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[] sterility in mice lacking the ubiquitin-like DNA repair gene mHR23B MOLECULAR-AND-CELLULAR-BIOLOGY.[]

  • Cole-Carpenter Syndrome

    A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility.[] dysplasias.[] The proptosis may be progressive and eventually interfere with blinking and normal surface wetting of the cornea.[]

  • MELAS Syndrome

    Park, A codominant SCAR marker linked to the genic male sterility gene (ms) in chili pepper (Capsicum annuum), Plant Breeding, 129, 1, (35-38), (2009).[] […] retinal pigment epithelium, inner segments of the photoreceptors, smooth muscle cells of the choroidal and retinal vessels, the dilator and sphincter muscle of the iris, cornea[] Cornea reflexes were present and gag reflex absent.[]

  • Down Syndrome

    Chromosoma 73:369–379 Google Scholar Chandley AC (1982) A pachytene analysis of two male-fertile paracentric inversions in chromosome 1 of the mouse and in the male-sterile[] Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[] Kanako has stunted growth, underdeveloped teeth, congenital heart disease and partial blindness stemming from a progressive thinning of her corneas -- all symptoms typical[]

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