29101 to 29200 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Hyaline Plaques with Absent Oxidative Activity
• Myofibrillar Lesions
• Short Limbs Become More Apparent during Childhood
• Disproportionately Short Limbs - Often Noted at Birth
• Loose, Redundant Skin on Fingers
• Short, Broad Phalanges
• Broad Middle and Proximal Phalanges
• Short Broad Phalanges - Progressive Shortening in First Year
• Progressive Shortening of Ulna in First Year of Life
• Progressive Shortening of Radius in First Year
• Progressive Shortening of Humerus in First Year of Life
• Thoracolumbar Interpediculate Narrowness
• Anterior Beaking
• Oval Vertebral Bodies in Infancy
• Small to Normal Birth Length
• Final Adult Height 38-49 Inches
• Superiorly Curved Clavicles
• Enlarged Knee Joints
• Phenotypic Variation in Severity and Symptoms
• Later Childhood Onset Has Been Reported
• Onset Usually in Infancy
• Muscle Biopsy Shows Endplate Myopathy
• Slow, Delayed Pupillary Light Reflex
• Abnormal Encasement of Presynaptic Membrane by Schwann Cells
• Focal Degeneration of Postsynaptic Junctional Folds (Muscle Biopsy)
• Muscle Biopsy Shows Decreased Postsynaptic Membrane Density
• Size of Endplates Decreased (Muscle Biopsy)
• Muscle Biopsy Shows Decreased Size of Nerve Terminals
• Frequency of MEPP Decreased
• Miniature Endplate Currents Prolonged
• Multiple CMAP Response to Single Nerve Stimulation
• Weakness Is Exacerbated by Exertion
• Generalized Weakness due to Defect at the Neuromuscular Junction
• Onset in Second to Fifth Decade
• Thymidine Increased
• Thymidine Phosphorylase Activity Decreased
• Chronic Intestinal Pseudoobstruction
• Sensorimotor Axonal-Demyelinating Neuropathy
• Hypodensity of Cerebral White Matter (MRI)
• Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol Glucosyltransferase Deficiency
• Transaminases during Infections Elevated
• Diagnosis Requires 3 Major Features and at Least 3 Minor Features
• White Dermatographism
• Nipple Dermatitis
• Cutaneous Infections - Staphylococcus Aureus, Herpes Simplex
• Hand Dermatitis (non Allergic Irritant)
• Immediate Skin Test Reactivity
• Recurrent Conjunctivitis
• Prominent Psychiatric Symptoms
• Mean Age at Onset 28 Years
• Insertion of 8 Extra Octapeptide Repeats in the Prion Protein Gene
• Mild Spongiosis
• Fibrillary Plaques in the Cerebellar Cortex
• Urine cAMP Response to PTH Decreased
• Large Sella Turcica
• Open Cranial Sutures
• Midline Nasal Cleft
• Adult Onset (2nd to 6th Decade)
• Age at Onset 14 to 44 Years
• Caused by Mutations in the Tumor Protein 63 Gene
• Aplastic or Hypoplastic Breasts
• Vestibular Aqueduct Dilated
• Severe Delay in Phalangeal Epiphyseal Bone Maturation
• Prominent Distal Phalangeal Tufts
• Long Slender Middle and Proximal Phalanges
• Gracile Metacarpals
• Severely Delayed Patellae Ossification
• Irregular Flared Metaphyses with Streaky Sclerosis
• Small Flattened Irregular Epiphyses
• Large Joint Dislocations (Especially Knees)
• Tapered Ischia
• Narrow Femoral Necks
• Small, Flattened Capital Femoral Epiphyses
• Sacral Spinal Dysraphism
• IgA Very Low
• IgG Very Low
• Defect in VDJ Recombination Process
• Hypoplastic Thymus Which Often Lacks Hassal Corpuscles
• Variable Number of Activated CD45RO+ DR+ Circulating T Cells
• B-Cell Count Severely Decreased
• Frequency of Bacterial Viral and Fungal Infections Increased
• Nuchal Skin Folds
• Onset of Hearing Loss in Late Childhood or Adolescence
• Cochleosaccular Dysplasia
• Moderate to Severe Deafness - Onset in Third Decade
• High-Frequency Hearing Loss
• Thin Hyperpigmented Skin
• Imperforate Vaginal Hymen
• >99% of Mutations: FGFR3, G380R
• 80% Cases New Mutations
• Autosomal Dominant with Complete Penetrance
• Mutation in the Fibroblast Growth Factor Receptor 3 Gene
• Flat Rooted Acetabulae
• Narrow Sacroiliac Groove
• Dysplastic Ilium
• Progressive Interpediculate Narrowing in Lumbar Spine
• Congenital Spinal Stenosis due to Short Pedicles - Especially Lumbar
• Exaggerated Lumbar Lordosis during Childhood and Adulthood
• Recurrent Otitis Media in Infancy and Childhood
• Mean Female Height: 124 cm