The abnormal Glcβ1-3Fuc O -linked disaccharides on thrombospondin type 1 repeats of Peters’ Plus syndrome 5 are not present in serum transferrin and, thus, TIEF screening is not indicated in the diagnostics of this disease. [nature.com]

Congenital cardiac defects, ichthyosis, and hypertrichosis may be present. The skin over the dorsum of the hands and feet often appears dark. Ataxia is sometimes present and MRIs may reveal vermal and cerebellar hypoplasia. [disorders.eyes.arizona.edu]

Hypoplastic pituitary gland was present in all three investigated children. Ichthyosiform dermatitis appeared in infancy in all surviving children. [onlinelibrary.wiley.com]

Case presentation We present 2 brothers at the age of 38 and 40 years with an initial diagnosis of cerebellar ataxia. [bmcmedgenet.biomedcentral.com]

• Sparse to No Eyebrows

  […] hair Thick eyebrow Everted lower lip vermilion Highly arched eyebrow Poor speech Abnormal cerebellum morphology Thick lower lip vermilion Narrow forehead Low anterior hairline Hypermetropia Long eyelashes Aplasia/Hypoplasia of the corpus callosum Palpebral [mendelian.co]

• Low-Set Posteriorly Rotated Ears

  rotated ears Cerebellar vermis hypoplasia Absent speech Protruding ear Low-set, posteriorly rotated ears Sparse hair Thick eyebrow Everted lower lip vermilion Highly arched eyebrow Poor speech Abnormal cerebellum morphology Thick lower lip vermilion [mendelian.co]

• Muscle Hypotonia

  All patients presented with early clinical symptoms, mostly muscle hypotonia and visual problems in the first 6 months of life. Several had a severe delay in early motor development. [academic.oup.com]

  Muscle hypotonia developed at the age of 5 months, and severe mental delay, visual impairment, optic atrophy, nystagmus, cerebellar ataxia, and recurrent episodes of reduced activity followed [ 12 ]. [bmcmedgenet.biomedcentral.com]

  Patient II-2 was examined by a pediatrician at age 18 months and was found to have normal muscle tone but increased, brisk reflexes and mild hyperkeratosis on the right leg. [jamanetwork.com]

• Scanning Speech

  Recent examinations of both patients revealed ataxic gait, dysmetria, dysdiadochokinesia, and scanning speech. Muscle tonus was normal, deep tendon reflexes were increased, and Achilles clonus was present. No pathologic reflex was observed. [bmcmedgenet.biomedcentral.com]

• Postural Instability

  instability Cerebral atrophy Encephalopathy Myoclonus Developmental regression Aciduria Tetraplegia Tetralogy of Fallot Neurodegeneration Spastic tetraplegia Truncal ataxia Abnormal vertebral morphology Intention tremor Hepatic failure Posteriorly rotated [mendelian.co]

Biochemical workup included renal and liver function tests, glucose, insulin, C-peptide, and glucagon levels. [docksci.com]

• Karyotype Abnormal

  Abnormal sex determination Adrenal calcification Abnormality of cholesterol metabolism Decreased circulating androgen level Abnormality of prenatal development or birth Generalized bronze hyperpigmentation Abnormal urine potassium concentration Abnormality [mendelian.co]

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

We suggest routine screening and follow-up for ophthalmological anomalies in all children diagnosed with CDG syndrome to provide early treatment and adequate counselling. [pubmed.ncbi.nlm.nih.gov]

As researchers develop potential treatments, eyeGENE will help facilitate patient recruitment for clinical trials, Dr. Sieving said. [newsfromaoa.wordpress.com]

Prognosis (please describe) The prognosis regarding quality of life is mainly determined by the nature and the degree of the brain and eye involvement. [nature.com]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. [findzebra.com]

Research output : Contribution to journal › Article Prevalence and prognosis of Alzheimer's disease at the mild cognitive impairment stage Vos, S. J. [kclpure.kcl.ac.uk]

We excluded storage disorders such as mucopolysaccharidosis type IV, which can present from birth in the form of CCO, along with all other metabolic causes and storage disorders, as etiologically distinct. [molvis.org]

A wide spectrum of disorders caused by diverse monogenic etiologies resembles DS. [docksci.com]

A clinical, genetic, and epidemiological study. Clin Genet 19: 233–256. PubMed Google Scholar Julius CE, Keeran M (1971) Netherton’s syndrome in a male. Arch Dermatol 104: 422–424. [link.springer.com]

Epidemiology PLMD is estimated to occur in approximately 4% of adults (aged 15–100),J Psychosom Res. 2002 Jul;53(1):547-54. It is more commonly reported in the elderly and those with the previous medical conditions stated earlier. [findzebra.com]

Idiopathic short stature: Definition, epidemiology, and diagnostic evaluation. Growth Hormone and IGF Research, 18 (2), 89-110. DOI: 10.1016/j.ghir.2007.11.004. Publication link: 7aef42d3-bc44-4fb5-bc31-fef601ada656 Yesudian, P. D., Berry, J. [research.bmh.manchester.ac.uk]

Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations. Curr Treat Options Neurol 2013;15:78–89. Google Scholar 12. Berger S, Bosmia AN. [degruyter.com]

In the present article, we review emerging preclinical and clinical evidence related to these effects, and discuss some of the potential mechanisms underlying the role of S5αR in the pathophysiology of mental disorders. [ingentaconnect.com]

We report the clinical, molecular, and biochemical characterization of three new patients with DS, and address genotype–phenotype issues playing a role in the pathophysiology of DS. [docksci.com]

“It’s important to know the type of genetics disease in the population so that you can prevent them. And the way we prevent it is by identifying the gene. [adwonline.ae]

Three and a half years later, the investigation case files are well known to many - to those who took the time to read them; and so are the diligences that a hasty archival prevented the Judiciary Police of concluding. [joana-morais.blogspot.com]

Two of these agents, finasteride and dutasteride, have received official approval for the treatment of benign prostatic hyperplasia and are being tested for prevention of prostate cancer. [ingentaconnect.com]

Noting that the fracture sites coincided with the previously attempted IV placement sites, a jugular Hickman catheter was placed to prevent such reoccurrences. [cags.org.ae]