Mucopolysaccharidosis 2
Abnormal retinal pigmentation and papilloedema - leading to visual impairment. Type B - mild form This usually presents later and may not be noticed until adulthood.[patient.info]
Recurrent upper respiratory infections, a chronic runny nose, hearing impairment, liver and spleen enlargement, inguinal and abdominal hernias, joint stiffness and multiplex[rarediseases.org]
[…] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov]
Mucopolysaccharidosis
pigment epithelium.[ncbi.nlm.nih.gov]
Both siblings displayed reduced frequencies of upper respiratory infections and apnea indices.[ncbi.nlm.nih.gov]
Respiratory complications could occur and upper respiratory tract infections and sinopulmonary disease are common.[centogene.com]
Barth Syndrome
[…] nevi Progressive hereditary glomerulonephritis without deafness Proteus syndrome Radial aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia[icd9data.com]
Mouth ulcers, bleeding gums, skin infections, and upper respiratory infections were the most common complications, but pneumonia, sepsis, and more severe infections occurred[bloodjournal.org]
face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[childrenshospital.org]
Mucopolysaccharidosis 1
Figure 4 Retinal pigment epithelial changes in a 15-year-old patient with MPS IH/S Hurler/Scheie. A total of 13 patients with MPS IH Hurler had undergone ERGs.[nature.com]
MPS I-H causes a spinal 'gibbus' deformity, persistent nasal discharge, middle ear effusions and frequent upper respiratory infection.[patient.info]
The airway may become narrow in some people with MPS I, causing frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea).[ghr.nlm.nih.gov]
Kniest Dysplasia
Giant retinal macrocysts made flattening of thethinned, foreshortened, cystic retina difficult.[jamanetwork.com]
There have been recurrent upper and lower respiratory infections and persistent mild stridor.[jmg.bmj.com]
face Circular face Round facial appearance Round facial shape [ more ] 0000311 5%-29% of people have these symptoms Cataract Clouding of the lens of the eye Cloudy lens [[rarediseases.info.nih.gov]
Fleck Retina of Kandori
Greer CH : Epithelial tumours of the retinal pigment epithelium . Trans Ophthalmol Soc UK 1952, 72 : 265–77. 40. Garner A : Tumours of the retinal pigment epithelium .[nature.com]
Respiratory Infection buy viagra Cialis 5mg 30 Pack Cheap Animal Amoxicillin For Infected Porcipine Quills 27 de Outubro de 2017 15:52 RonCroribog disse Levitra Classification[jornalobasto.com]
face and brachydactyly.[kegg.jp]
Vitamin D Deficiency
Many parts of the human eye, including the epithelium of the cornea, lens, ciliary body, and retinal pigment epithelium, as well as the corneal endothelium, ganglion cell[ncbi.nlm.nih.gov]
MATERIALS AND METHOD: The study involved 730 patients with recurrent respiratory infections.[ncbi.nlm.nih.gov]
NIWA provides a year round daily guide of the UV throughout New Zealand.[health.govt.nz]
Alstrom Syndrome
, retinal pigment epithelium atrophy, focal chorioretinal fusion, preretinal fibrosis, bilateral giant optic disc drusen, and optic nerve atrophy.[ncbi.nlm.nih.gov]
respiratory infections.[ncbi.nlm.nih.gov]
Although growth spurt is normal in early childhood, it plateaus off and individuals with ALMS usually have a short stature, round face, thick ears, frontal alopecia, abnormal[symptoma.com]
Geleophysic Dysplasia
Cell spreading of adult retinal pigmented epithelial cells (ARPE-19) on fibrillin-1 and fibrillin-2 protein fragments.[journals.plos.org]
Other features include enlargement of liver ( hepatomegaly ), tracheal stenosis (narrowing of the windpipe), and recurrent respiratory and ear infections.[xpertdox.com]
face with full cheeks.[ncbi.nlm.nih.gov]
Retinohepatoendocrinologic Syndrome
pigment abnormalities Radius absent anogenital anomalies Ramos Arroyo Clark syndrome Ramsay Hunt paralysis syndrome Rasmussen Johnsen Thomsen syndrome Rasmussen subacute[mindmappedia.com]
Respiratory Infection Syndrome RRS Result Reporting [clinical Data] Repository System; Retrorectal Space; Richards-Rundle Syndrome RS Richter's Syndrome (transformation Of[medicabbreviations.com]
Anthropometric and growth measures Individuals with AS often have distinctive facial features, such as round face, deep-set eyes, thick ears, dental anomalies, hyperostosis[ojrd.biomedcentral.com]