Presentation
Unilateral hydronephrosis was present. [dev.docslide.net]
Moreover, we present additional unreported clinical and neuro‐imaging findings and a novel mutation thus expanding the phenotypic and mutational spectrum of this rare disorder. [bionity.com]
Only one reported patient (patient 4 in 5 ) did not present with brachytelephalangy. [nature.com]
Moreover, we present additional unreported clinical and neuro-imaging findings and a novel mutation thus expanding the phenotypic and mutational spectrum of this rare disorder. [bioportfolio.com]
Acronym HPMRS2 Synonyms Glycosylphosphatidylinositol biosynthesis defect 6 GPIBD6 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
Entire Body System
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Physician
Apparently, local hospitals are using the Physicians Health Program to push out doctors with disabilities or who may make a patient safety claim. [medworm.com]
This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment. [diseaseinfosearch.org]
Skin
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Hypoplastic Nails
(a) Brachytelephalangy with missing and hypoplastic nails of fingers. (b) Hand radiograph showing hypoplastic distal phalanges. (c) Broad hallux and hypoplastic toenails. [iofbonehealth.org]
Brachytelephalangy was present with hypoplastic nails, especial- ly on thumbs and little fingers. She developed a mild scoliosis. Alkaline phosphatase activity was increased to between 1,937 and 2,069U/L (NR 410U/L). A karyotype was normal. [dev.docslide.net]
Figure 3 Hand anomalies of patients with PIGV mutations. ( a ) Brachytelephalangy with missing and hypoplastic nails of fingers of patient 8. ( b ) Hand radiograph of patient 2 showing hypoplastic distal phalanges. ( c ) Broad hallux and hypoplastic toenails [nature.com]
Face, Head & Neck
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Downturned Corners of the Mouth
Midface hypoplasia, prognathism, hypertelorism, long palpebral fissures, arched eyebrows, broad nasal bridge and tip, cleft palate (rare), short philtrum, downturned corners of the mouth, tented mouth, ventral septal defect (rare), feeding problems necessitating [iofbonehealth.org]
She had long palpebral fissures, a prominent nasal bridge, simple cupped ears with thickened helices, and a tented upper lip with downturned corners of the mouth (Fig. 1A). [dev.docslide.net]
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Downturned Corners of the Mouth
Midface hypoplasia, prognathism, hypertelorism, long palpebral fissures, arched eyebrows, broad nasal bridge and tip, cleft palate (rare), short philtrum, downturned corners of the mouth, tented mouth, ventral septal defect (rare), feeding problems necessitating [iofbonehealth.org]
She had long palpebral fissures, a prominent nasal bridge, simple cupped ears with thickened helices, and a tented upper lip with downturned corners of the mouth (Fig. 1A). [dev.docslide.net]
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Round Face
She was hypotonic at birth and had a round face, downturned mouth, and thickened helices. The patient developed tonic-clonic seizures at age 8weeks. Renal ultrasound study showed unilateral hydronephrosis. [dev.docslide.net]
Neurologic
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No Speech Development
development (in most patients). [iofbonehealth.org]
In addition to eye abnormalities, affected individuals may also have neurological abnormalities including diminished muscle tone (hypotonia), delays in speech development, varying degrees of cognitive impairment, poor coordination and clumsiness, and [rarediseases.org]
Speech development, especially expressive language, was more affected than motor skills in the majority of patients (Table 1). Seizures are present in the majority of this cohort. [mafiadoc.com]
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No Speech Development
development (in most patients). [iofbonehealth.org]
In addition to eye abnormalities, affected individuals may also have neurological abnormalities including diminished muscle tone (hypotonia), delays in speech development, varying degrees of cognitive impairment, poor coordination and clumsiness, and [rarediseases.org]
Speech development, especially expressive language, was more affected than motor skills in the majority of patients (Table 1). Seizures are present in the majority of this cohort. [mafiadoc.com]
Workup
We hope that a functional workup of these mutations with respect to their protein impairment of PIGV will enable a better prediction of the phenotypic outcome of the patients based on the genotype information. References 1. [nature.com]
Prior workup including laboratory studies, abdominal X-ray, upper gastrointestinal series with fluoroscopy, barium enema, and abdominal ultrasound were all within normal limits. [readbyqxmd.com]
Before enrollment, the patients had undergone an extensive diagnostic workup, including genomic profiling (performed with the use of the 250K Affymetrix SNP array) and targeted gene tests, with metabolic screening whenever indicated, but these evaluations [nejm.org]
Serum
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Alkaline Phosphatase Increased
Hyperphosphatasia is a heterogeneous group of disorders characterized by a generalized skeletal disease and increased alkaline phosphatase. [jhu.pure.elsevier.com]
Biopsy
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Cytoplasmic Inclusion Bodies
IMMUNOHISTOCHEMISTRY FOR CYTOPLASMIC INCLUSION BODIES In Patients 1 and 2, no abnormal vacuoles were observed on rectal biopsy (data not shown). A 4mmskin punchbiopsywas performed in Patient 3. [dev.docslide.net]
Treatment
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
The therapies include rapid recognition of the condition, treatment of the reversible causes, ICD-reprogramming, a... CONCLUSION: These data suggest that policies are needed to support disabled people with low household incomes. [medworm.com]
Treatment with valproic acid and rufinamide resulted in partial control of seizures. Cluster seizures were treated with clonazepam. [dev.docslide.net]
Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines. [orpha.net]
Prognosis
The long-term prognosis of properly managed CCD is favorable. We present a case of complicated CCD with necrotizing enterocolitis. The child was born to nonconsanguineous parents of Lithuanian origin. [readbyqxmd.com]
[…] thought to have a genetic cause, 2 but the cause remains elusive in 55 to 60% of patients. 3,4 An understanding of the genetic cause of intellectual disability can benefit patients and their families, because a diagnosis may provide information on the prognosis [nejm.org]
Etiology
ELANE should be screened in patients with congenital neutropenia of no obvious etiology... [readbyqxmd.com]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
Multiple novel candidate genes were also identified in this study, many of which are likely etiologic based on known biological function ( Table 4 and S1 File ). [journals.plos.org]
[…] patients had undergone an extensive diagnostic workup, including genomic profiling (performed with the use of the 250K Affymetrix SNP array) and targeted gene tests, with metabolic screening whenever indicated, but these evaluations had not led to an etiologic [nejm.org]
Epidemiology
Keywords: Mabry syndrome PGAP3 Hyperphosphatasia with Mental Retardation Intellectual Disability Noncoding Mutations Genetics & Heredity Genetics Clinical Sciences Publication Status: Published Appears in Collections: Faculty of Medicine Epidemiology, [spiral.imperial.ac.uk]
The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev 2002 ;8: 117 - 134 2. Ropers HH. Genetics of early onset cognitive impairment. [nejm.org]
Prevention
CC BY-ND CC-BY-NC-ND Restrictive Licence : A licence preventing reuse of material unless certain restrictive conditions are satisfied. Note licence restrictions, and contact rights holder for permissions beyond the terms of the licence. [researchdata.ands.org.au]
This retention would prevent the loss of known, rare disease-causing mutations that are shared between unrelated samples in the study cohort. [journals.plos.org]
HSPB11) apoptotic cell death, role in prevention of IFT27 protein is ras-related, but the function is unknown IFT43 Cranioectodermal dysplasia 3 (CED3) IFT80 Asphyxiating thoracic dystrophy 2 (ATD2) (Jeune syndrome 2) IFT122 Cranioectodermal dysplasia [uniklinik-freiburg.de]