An encyclopaedic overview and analysis of sudden death in the young, this is a key text for pediatric and forensic pathologists, pediatricians, and lawyers and physicians involved in medicolegal cases. [books.google.com]

Sometimes, pathologists practice both anatomical and clinical pathology, a known as general pathology. [wikivisually.com]

E03.1 without goiter Synonyme : CH, neonatal hypothyroidism, fetal iodine deficiency disorder Argininosuccinate Lyase Mangel (ASL) ( 2 Files ) Name der Erkrankung: Argininosuccinate Lyase Deficiency ICD 10: E72.2 Synonyme: ASA deficiency, ASL deficiency [orphananesthesia.eu]

The absence of any evidence of the smaller fragment in either of the parent's DNA excluded recessive inheritance and also excluded the possibility of maternal somatic mosaicism suggested by the mother's mild joint laxity. [jmg.bmj.com]

This term means that a person is tall and slender, with long arms, hands, fingers, legs, feet and toes. A Marfanoid body habitus occurs in a minority of EDS-H patients, but it does not appear to be generally associated with classic EDS. [forgottendiseases.org]

Brittle Cornea Syndrome 1 Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility Dysgenesis Mesodermalis Corneae Et Sclerae Ehlers-Danlos Syndrome, Type VIB Fragilitas Oculi With Joint Hyperextensibility BCS1 EDS6B 229200 Genetic Test [ukgtn.nhs.uk]

sclerae, small jaw, hypertrichosis Dominant COL1A1, COL1A2 Arthrochalasia, type VII A/B (Exon 6 COL1A1/2 ) Dermatosparaxis Type (EDS type VIIC) Soft and very thin, fragile skin (tearing of the skin), stretchy skin, easy bruising, joint hypermobility [uwcpdx.org]

Hyperextesible skin, gaping wounds, cigarette-paper scars, molluscoid pseudotumors, calcified subcutaneous nodules, bruises, hypermobile joints with dislocation, hernias, mitral valve prolapse, blue sclerae, Gorlin's sign (tongue reaches nose), absence [quizlet.com]

CUTIS hyperelastica Ehlers-Danlos syndrome with blue scleras, microcornea, and glaucoma. AMA Arch Ophthalmol 1953;49:220-1. 7. Pollack JS, Custer PL, Hart WM, Smith ME, Fitzpatrick MM. Ocular complications in Ehlers-Danlos syndrome type IV. [ijo.in]

Terms: Cutis Elastica Synonyms Brittle cornea syndrome Congenital anomaly of sclera Congenital kyphoscoliosis Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Cutis laxa, x-linked Disorder of copper metabolism Distal arthrogryposis [icdlist.com]

My family has a history of valve problems, hernias and intestinal ruptures etc, I have the thin skin visable veins, soft skin and the typical scarring of eds. [inspire.com]

skin Dominant C1S, C1R Peridontal, Type VIII Musculocontractural Type Craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, hypotonia, thin skin, easy bruising, atrophic scarring, joint hypermobility [uwcpdx.org]

Type Clinical Findings Inheritance Gene Defects Classical Skin and joint hypermobility Atrophic scars Easy bruising Autosomal dominant COL5A1 COL5A2 Hypermobility Joint hypermobility Pain Spontaneous dislocations Autosomal dominant Unknown Vascular Thin [rarediseasesindia.org]

skin 0000963 Showing of 33 Last updated: 3/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

The type and severity of symptoms can vary between individuals with Ehlers-Danlos Syndrome, Dermatosparaxis Type, and may include: Presence of loose, sagging, elastic skin; abnormally-thin skin A tendency to bruise easily Permanent skin scarring Loose [dovemed.com]

wrinkled skin of palms and soles Increased wrinkles of palms and soles Wrinkled palms and soles Wrinkled skin of hands and feet [ more ] 0007517 Poor wound healing 0001058 Premature loss of teeth Early tooth loss Loss of teeth Premature teeth loss Premature [rarediseases.info.nih.gov]

The Münchausen syndrome or even hysteria have been used in several conclusions from physicians. The patient is led to doubt of his own mental health, and so is its family. [omicsonline.org]

2009), relying on the strengthening of proprioceptive function (orthesis, physical therapy, balneotherapy, occupational therapy, relaxation), psychotherapy of pains, hypnosis, respiratory rehabilitation, intrapulmonary percussive ventilation with impulsator [omicsonline.org]