INTRODUCTION This publication is designed to assemble and present the basic firearms and weapons laws of North Carolina in an effort to educate and emphasize for the public, the responsibilities and The History of Firearms, 1200 - 1900 A Summary in Images [berlpdf.com]

We present a case of trichorhinophalangeal syndrome in a 23-year-old man who presented with symmetrical painless progressive deformity of the fingers in both hands. [manipal.pure.elsevier.com]

We present the case of a child with two novel and different mutations, not previously reported. 2. Case Presentation A 4-year-old girl was observed in the emergency department after minor nose trauma. [hindawi.com]

CASE PRESENTATION To cite: Narayanan R, Chennareddy S. [docksci.com]

Case presentation We report the case of a 17 months old girl, who presented growth retardation and dysmorphic features. [ijponline.biomedcentral.com]

• Short Stature

  The father, who was 40 years old, was of short stature (147 cm). Besides short stature he had impressively short fingers and small nails on both hands and feet. [tandfonline.com]

  Clinical description TRPS types 1 and 3 are variants of a single disease, type 3 being at the severe end of the clinical spectrum, with very short stature and very severe brachydactyly. [orpha.net]

  Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature. [mendelian.co]

  Name: trichorhinophalangeal syndrome type I Search Ontology: Synonyms: Trichorhinophalangeal dysplasia type I trichorhinophalangeal syndrome type 1 type I trichorhinophalangeal syndrome Definition: An autosomal dominant disease that is characterized by short [zfin.org]

• Tall Stature

  FGFR3 chondrodysplasia group This includes the following conditions: Achondroplasia Thanatophoric dysplasia types 1 and 2 Hypochondroplasia Severe achondroplasia with developmental delay and acanthosis nigricans Camptodactyly, tall stature, and hearing [emedicine.medscape.com]

  CADASIL NGS panel HTRA1, NOTCH3 Del Dup NGS Caffey disease COL1A1 Del Dup NGS Campomelic dysplasia SOX9 Del Dup NGS Camptodactyly, tall stature, and hearing loss syndrome FGFR3 Del Dup NGS Camurati-Engelmann disease TGFB1 Del Dup NGS Cantu syndrome ABCC9 [ctgt.net]

  […] gangliosidosis, AB variant and ","Anaphylactic shock\n","Unconsciousness due to anaphylactic reaction\n","Death due to anaphylactic reaction\n\nSee also the symptoms of Food Allergy -- abalone and Food","Hypotonia (skeletal muscle)\n","Hyperreflexia\n","Tall [webhealthnetwork.com]

  […] cartilagenious exostoses 1 AD 67 497 FBN1 MASS syndrome, Marfan syndrome, Acromicric dysplasia, Geleophysic dysplasia AD 919 2548 FGFR3 Lacrimoauriculodentodigital syndrome, Muenke syndrome, Crouzon syndrome with acanthosis nigricans, Camptodactyly, tall [ghcgenetics.com]

  […] cartilagenious exostoses 1 AD 97 523 FBN1 MASS syndrome, Marfan syndrome, Acromicric dysplasia, Geleophysic dysplasia AD 1465 2679 FGFR3 Lacrimoauriculodentodigital syndrome, Muenke syndrome, Crouzon syndrome with acanthosis nigricans, Camptodactyly, tall [blueprintgenetics.com]

• Ectopia Lentis

  Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome (craniocarpotarsal dystrophy) 759.89 [icd9data.com]

  lentis and with or without secondary glaucoma, Glaucoma, primary congenital AR 21 26 NPR2 Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific skeletal abnormalities AD/AR 30 67 PRKAR1A Myxoma, intracardiac [ghcgenetics.com]

  lentis and with or without secondary glaucoma, Glaucoma, primary congenital AR 21 27 NPR2 Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific skeletal abnormalities AD/AR 32 75 PRKAR1A Myxoma, intracardiac [blueprintgenetics.com]

  lentis, familial (EL) FBN1+del Ectopia lentis, isolated, autosomal dominant FBN1+del Ectopia pupillae PAX6+del Ectrodactyly, autosomal recessive WNT10B Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) TP63 (=p63) EEC syndrome [uniklinik-freiburg.de]

• Lordosis

  (scoliosis) Excessive curvature of the lower back (lordosis) Pelvis Deformities in the large bone in the leg/ femur Hands Short and misshapen fingers Feet Flat foot Short toes Nails Thin Spoon shaped White spots Hair Sparse Thin Slow growing Thin eyebrows [nfed.org]

  These may be manifested as: Arthritis affecting the fingers, elbow, and spine Loss of bone in the thigh A prominent breastbone Sideways curvature of the spine (scoliosis) Backward curvature of the spine (lordosis) Wing-like appearance of the shoulder [dovemed.com]

  […] physical abnormalities including abnormal prominence of the breast bone (pectus carinatum), an unusual “wing-like” shape of the shoulder blades (scapula), abnormal side-to-side curvature of the spine (scoliosis), and/or backward curvature of the spine (lordosis [rarediseases.org]

• Long Arm

  Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 11p13” refers to band 13 on the short arm of chromosome 11. [rarediseases.org]

• Winged Scapula

  scapulae, multiple cartilaginous exostoses, redundant skin and mental retardation. [medical-dictionary.thefreedictionary.com]

  scapulae) Pectus carinatum (keel-shaped deformity of the chest, protrusion abnormalities of the anterior chest wall) Skeletal Delayed bone age before puberty (slow bone growth) Accelerated bone age after puberty Osteopenia (late-onset) (lower than normal [nfed.org]

  Additional skeletal abnormalities may also be present including thin, narrow ribs; unusual “wing-like” shoulder blades (winged scapula); webbing (syndactyly) of certain fingers and toes; and/or abnormalities of the spinal column including sideways curvature [rarediseases.org]

  Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and [genecards.org]

• Macrocephaly

  Postnatal growth was always below − 2 Standard Deviation for both weight and length and physical examination revealed relative macrocephaly, sparse hair, bulbous nasal tip, thin upper lip, protruding ears, prominent forehead, small jaw, and short hands [ijponline.biomedcentral.com]

  […] with Multiple Epiphyseal Dysplasia and Distinctive Facies macrocephaly-autism syndrome Macrophage Activation Syndrome Madelung Deformity Maffucci syndrome Majeed Syndrome Malabsorption Syndromes + Malignant Carcinoid Syndrome + Mallory-Weiss Syndrome [rgd.mcw.edu]

  Achondroplasia is characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. The estimated incidence is at about 1/25,000 live births worldwide. [ghcgenetics.com]

  […] carcinoma, head and neck, somatic (HNSCC) Thyroid carcinoma, follicular, somatic (FTC) VATERL (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects) with macrocephaly [uniklinik-freiburg.de]

• Joint Stiffness

  Weill-Marchesani syndrome is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. [ghcgenetics.com]

• Large Ears

  The characteristic appearance of individuals with TRPS I involves thick eyebrows; a broad nose with a rounded tip; large ears, a long, smooth area between the nose and the upper lip (philtrum); a thin upper lip; and small teeth that are either decreased [medlineplus.gov]

  The characteristic appearance of individuals with TRPS I involves thick eyebrows ; a broad nose with a rounded tip ; large ears, a long, smooth area between the nose and the upper lip (philtrum); a thin upper lip ; and small teeth that are either decreased [ghr.nlm.nih.gov]

  Facial characteristics of the syndrome include a rounded nose, long, flat philtrum, a thin and long upper lip, large ears, small lower jaw, thin eyebrows, sparse eyelashes, a triangular face and a short stature. [fdna.health]

  ears 0000400 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Protruding ear Prominent ear Prominent ears [ more ] 0000411 Short distal phalanx of finger Short outermost finger bone 0009882 Short metacarpal Shortened long bone [rarediseases.info.nih.gov]

• Alopecia

  While the mother and her older daughter had only discrete alopecia and hardly disturbed hair growth, the younger daughter presented with fine, slow-growing hair and diffuse alopecia. [jamanetwork.com]

  Publication country Spain Document type Article Language Spanish, Castilian Keyword (fr) Alopécie Cuir chevelu Etude cas Femelle Homme Nez ORL pathologie Peau pathologie Poil Système ostéoarticulaire pathologie Trichorhinophalangien syndrome Keyword (en) Alopecia [pascal-francis.inist.fr]

  Alopecia and structural abnormalities of the nose and the hands should be considered as clinical hallmarks, whereas endocrine disorders, renal alterations, ureteral reflux, heart pathology and bone dysplasia have been documented, in the setting of a multisystem [unboundmedicine.com]

  Physical examination shows sparse, fine hair, and diffuse or patchy alopecia [8, 15]. [karger.com]

• Thin Eyebrows

  (scoliosis) Excessive curvature of the lower back (lordosis) Pelvis Deformities in the large bone in the leg/ femur Hands Short and misshapen fingers Feet Flat foot Short toes Nails Thin Spoon shaped White spots Hair Sparse Thin Slow growing Thin eyebrows [nfed.org]

  Limited hair on end of eyebrow 0005338 Swelling of proximal interphalangeal joints Swelling of innermost hinge joints 0006253 Thin eyebrow Thin eyebrows 0045074 Thin nail Thin nails 0001816 Thin upper lip vermilion Thin upper lip 0000219 Showing of 61 [rarediseases.info.nih.gov]

  Facial characteristics of the syndrome include a rounded nose, long, flat philtrum, a thin and long upper lip, large ears, small lower jaw, thin eyebrows, sparse eyelashes, a triangular face and a short stature. [fdna.health]

  Ectodermal anomalies consist of slowly growing and sparse scalp hair, with receded medio-occipital hairline, medially thick and laterally thin eyebrows, dystrophic nails and dental anomalies, such as supernumerary teeth. [ijponline.biomedcentral.com]

• Delayed Bone Age

  […] of the anterior chest wall) Skeletal Delayed bone age before puberty (slow bone growth) Accelerated bone age after puberty Osteopenia (late-onset) (lower than normal bone density) Osteoarthritis (late-onset) Joint pain (late-onset) Spine Spine has a [nfed.org]

  In rare cases, affected individuals may also have an abnormally short forearm bone (ulna) and/or flat feet (pes planus). As individuals with TRPS1 age, most exhibit delayed bone age and growth retardation, resulting in short stature. [rarediseases.org]

Automatic image save - The last rendering is automatically saved in a .rimage file, Rhino's proprietary lossless image file format. emea/chmp/ewp/2455/02 page 2/9 emea 2004 guideline on the clinical development of medicinal products for the treatment [berlpdf.com]

The appropriate advancement of bone age during treatment suggests that his final height will not be adversely affected with GH treatment. [ijpeonline.biomedcentral.com]

Management and treatment Treatment is symptomatic. Plastic surgery may be proposed. The documents contained in this web site are presented for information purposes only. [orpha.net]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.de]

[…] to be undertaken; a treatment plan devised by the treating professional, including: an indicative time period for which the patient requires treatment date/s the treatment is expected to commence and date/s the treatment is expected to be completed. [www9.health.gov.au]

[…] the condition, then genetic counseling will help assess risks, before planning for a child Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders What is the Prognosis [dovemed.com]

The timing of diagnosis is not only important for choosing appropriate treatment objectives, but also improves the prognosis [ 23 ]. In these cases bone and cement condition are factors to consider in the treatment planning and mechanics. [omicsonline.org]

Because of this frequency and the diversity of these conditions, it is essential that the practitioner be able to recognize a fetus, newborn, or child with a skeletal dysplasia so that the diagnosis can be established, the prognosis determined, and a [musculoskeletalkey.com]

Etiology TRPS types 1 and 3 are linked to mutations in the TPRS1 gene localised to 8q24.12. Genetic counseling Transmission of trichorhinophalangeal syndrome type 1 and 3 is autosomal dominant. Management and treatment Treatment is symptomatic. [orpha.net]

The etiology is heterogeneous, highly variable and most of the cases are idiopathic. [ncbi.nlm.nih.gov]

Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review. ( 24357330 ) Cappuccio G....Melis D. 2013 17 An interstitial, apparently-balanced chromosomal insertion in the etiology [malacards.org]

(Etiology) Trichorhinophalangeal Syndrome Type 1 is a genetic disorder, which is commonly inherited in an autosomal dominant pattern. [dovemed.com]

Summary Epidemiology So far, more than 100 cases have been described in the literature. [orpha.net]

Epidemiology Triphalangeal thumbs have an incidence of 1 in 25,000 7. Pathology A triphalangeal thumb, as the name implies, has three phalanges instead of the usual two. There is an autosomal dominant genetic transmission 8. [radiopaedia.org]

[…] upper vermilion border and protruding ears,associated with skeletal anomalies including cone-shaped epiphyses at the phalanges,hip malformation and short stature Relevant External Links for TRPS1 Genetic Association Database (GAD) TRPS1 Human Genome Epidemiology [genecards.org]

EPIDEMIOLOGY Most skeletal dysplasias are uncommon, and often their exact incidence is unknown. [musculoskeletalkey.com]

Genetics and pathophysiology of TRPS I Consistent with the TRPS I phenotype, cartilage and hair follicles are among the limited tissues that express the gene. [ijpeonline.biomedcentral.com]

Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections. [livingnaturally.com]

To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break. [medlineplus.gov]

STRYVE’s focus on preventing youth violence before it occurs is unique. ... STRYVE, or Striving To Reduce Youth Violence Everywhere, is a Can compensatory growth contribute to reduce the so-called protein gap. ... friedrich.weissmann@vti. bund.de. [berlpdf.com]