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Glossary for Premature fusion of skull bones

Medical terms related to Premature fusion of skull bones or mentioned in this section include:

  • 46,XX chromosome 7 deletion p13: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • 7p2 Monosomy Syndrome: A rare chromosomal disorder where there is one copy of the end of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
  • ACPS III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • Acrocephalopolydactyly: A rare genetic condition characterized by limb abnormalities, extra digits and hydrocephalus. Other additional symptoms are variably present.
  • Acrocephalopolydactyly -- Cardiac Disease -- Ear, Skin and Lower Limb Defects: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • Acrocephalopolysyndactyly type III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • Acrocephalosyndactyly: A group of inherited disorders characterized by abnormalities involving the skull, face, hands and feet. Apert, Pfeiffer and Crouzon syndrome are examples of various types of the disorder.
  • Acrocephalosyndactyly II: A rare inherited disorder characterized primarily by premature closure of skull bones, fusion of fingers and toes and eye and face abnormalities.
  • Acrocephalosyndactyly Syndrome type 5: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrocephalosyndactyly type 5 (ACPS 5): A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Adducted thumb syndrome recessive form: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Adducted thumbs -- arthrogryposis, Christian type: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Agammaglobulinemia -- microcephaly -- craniosynostosis -- severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Agammaglobulinemia, microcephaly, and severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Anophthalmia -- megalocornea -- cardiopathy -- skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
  • Armendares syndrome: A rare syndrome characterized mainly by retarded growth and facial, skull and eye abnormalities.
  • Ataxia -- diabetes -- goiter -- gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Baker-Vinters syndrome: A very rare syndrome characterized by premature fusion of skull bones, hydrocephalus and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles.
  • Baller-Gerold Syndrome: A rare syndrome characterized by premature fusion of skull bones and radial defects. Variable other abnormalities may be present.
  • Bangstad syndrome: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Baraitser-Rodeck-Garner syndrome: A very rare syndrome characterized primarily by mental retardation, premature fusion of skull bones, kidney anomalies, seizures and facial anomalies.
  • Beare-Stevenson cutis gyrata syndrome: A rare genetic disorder involving skin and skull abnormalities due to the premature fusion of skull bones.
  • Beare-Stevenson cutis gyrate syndrome:
  • Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Bone conditions: Conditions that affect the bones
  • Bone dysplasia -- corpus callosum agenesis: A very rare syndrome characterized mainly by abnormal brain development and bone growth abnormalities.
  • Bone fragility, craniosynostosis, proptosis, hydrocephalus: A very rare genetic disorder characterized by fragile bones, premature closure of skull bones, protruding eyeballs and fluid buildup in the skull.
  • Bone symptoms: Symptoms affecting the body's bones
  • Bonnemann-Meinecke-Reich syndrome: A rare disorder characterized mainly by growth problems, vision problems and brain disease.
  • Braddock Jones Superneau syndrome: A very rare disorder characterized primarily by the premature fusion of skull bones (sagittal), the Dandy-Walker malformation and a buildup of fluid in the brain (hydrocephalus). The Dandy-Walker malformation is where a cyst develops in the back of the brain and interferes with the movement of fluid through the brain resulting in an accumulation of fluid.
  • Calabro syndrome: A rare syndrome characterized mainly by premature fusion of skull bones, arm and leg abnormalities, small jaw, short neck and genital defects.
  • Carbimazole -- Teratogenic Agent: There is strong evidence to indicate that exposure to Carbimazole during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cardiocranial syndrome: A rare syndrome characterized mainly by heart and skull abnormalities.
  • Christian's syndrome 1: A rare recessively inherited syndrome characterized by premature skull fusion, cleft palate, permanently flexed fingers and various other anomalies.
  • Chromosome 15q, tetrasomy: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is involved.
  • Chromosome 2, monosomy 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
  • Chromosome 7 deletion p21-p22.1: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • Chromosome 7 deletion p21.1-p22.1: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • Chromosome 7, Monosomy 7p2: A rare chromosomal disorder where there is one copy of the end of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
  • Chromosome 7, Partial Deletion of Short Arm: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
  • Chromosome 7, partial monosomy 7p: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
  • Chromosome 7, terminal 7p deletion: A rare chromosomal disorder where there is one copy of the end of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
  • Chromosome 7, trisomy 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Congenital craniosynostosis maternal hyperthyroiditis: The association of maternal thyroid disease with premature fusion of skull bones in infants. Studies have shown and increased risk of craniosynostosis in infants born to mothers with hyperthyroidism.
  • Congenital heart disease, ptosis, hypodontia, craniosynostosis: A rare birth syndrome characterized by heart disease, droopy eyelids, missing teeth and premature fusion of skull bones.
  • Craniomicromelic syndrome: A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth.
  • Craniostenosis cataract: A rare condition characterized by the association of cataracts and premature fusion of the skull bones.
  • Craniosynostosis -- Dandy-Walker -- Hydrocephalus: A very rare disorder characterized primarily by the premature fusion of skull bones (sagittal), the Dandy-Walker malformation and a buildup of fluid in the brain (hydrocephalus). The Dandy-Walker malformation is where a cyst develops in the back of the brain and interferes with the movement of fluid through the brain resulting in an accumulation of fluid.
  • Craniosynostosis -- alopecia -- brain defect: A very rare syndrome characterized mainly by a malformed skull, lack of hair and a brain defect.
  • Craniosynostosis -- cataract: A rare disorder characterized cataracts and the premature fusion of skull bones which gives the head an unusual shape.
  • Craniosynostosis -- congenital heart disease -- mental retardation: A rare syndrome characterized mainly by heart and skull abnormalities as well as mental retardation.
  • Craniosynostosis -- fibular aplasia: A very rare disorder characterized primarily by the premature fusion of skull bones as well missing or underdeveloped fibula (lower leg bone behind shin bone).
  • Craniosynostosis -- intracranial calcifications: A rare syndrome characterized by the premature fusion of skull bones as well as abnormal calcifications inside the skull. The features of the disorder may vary.
  • Craniosynostosis Fontaine type: A very rare disorder characterized primarily by the premature fusion of skull bones, hand, foot and stomach anomalies and a brain malformation (bilateral periventricular nodular heterotopia).
  • Craniosynostosis Philadelphia type: A rare disorder characterized primarily by the premature fusion of several skull bones as well as the incomplete separation of fingers and toes (syndactyly). The condition has been reported in five generations of one family.
  • Craniosynostosis arthrogryposis cleft palate: A rare syndrome characterized by the association of craniosynostosis (premature fusion of skull bones), cleft palate and arthrogryposis.
  • Craniosynostosis cleft lip palate arthrogryposis: A rare condition characterized mainly by the association of premature fusion of skull bones (craniosynostosis), cleft lip and/or palate and arthrogryposis.
  • Craniosynostosis exostoses nevus epibulbar dermoid: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using aminoglycosides as they can have a negative impact on hearing.
  • Craniosynostosis mental retardation clefting syndrome: A rare disorder characterized by premature fusion of the skull bones (craniosynostosis), mental retardation a cleft lip and/or palate.
  • Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus: A very rare disorder characterized primarily by the premature fusion of skull bones (sagittal), the Dandy-Walker malformation and a buildup of fluid in the brain (hydrocephalus). The Dandy-Walker malformation is where a cyst develops in the back of the brain and interferes with the movement of fluid through the brain resulting in an accumulation of fluid.
  • Craniotelencephalic dysplasia: A very rare syndrome characterized primarily by premature fusion of various skull bones and abnormal brain development.
  • Deletion 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
  • Developmental problems: Physical or mental development difficulty.
  • Dup (2) (q32-qter) and del (7) (pter-p22): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup(1) (p34.1-p31): A very rare chromosomal disorder where a portion of the short arm (p34.1-p31) of chromosome one is duplicated.
  • Dup(1p36.3): A very rare chromosomal disorder where a portion of the short arm (1p36.3) of chromosome one is duplicated.
  • Duplication 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Encephalopathy -- intracranial calcification -- growth hormone deficiency -- microcephaly -- retinal degeneration: A rare condition characterized mainly by brain disease, poor growth due to a deficiency of growth hormone, a small head and vision impairment.
  • Face symptoms: Symptoms affecting the face
  • Fontaine-Farriaux-Blanckaert syndrome: A rare syndrome characterized by premature fusion of skull bones as well as various other abnormalities.
  • Furlong-Kurczynski-Hennessy syndrome: A very rare syndrome characterized by the association of premature fusion of skull bones with Marfanoid features. The disorder arises from abnormal connective tissue.
  • Genoa syndrome: A rare disorder characterized mainly by premature fusion of skull bones and partial separation of the two brain halves.
  • Harper dwarfism: A rare inherited disorder involving a range of abnormalities. It is a variant of the Seckel syndrome.
  • Head symptoms: Symptoms affecting the head or brain
  • Herrmann-Opitz craniosynostosi: A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and an unusual facial appearance.
  • Holoprosencephaly -- ectrodactyly -- cleft lip/palate: A very rare syndrome characterized mainly by a cleft hand, lip and/or palate and the failure of the brain to separate into two lobes.
  • Holoprosencephaly deletion 2p: A very rare syndrome characterized mainly by the failure of the brain to separate into two lobes, facial deformities and various other anomalies.
  • Hordnes-Engebretsen-Knudtson syndrome: A very rare syndrome characterized by an abnormal skull shape, mental retardation, abnormally placed anus and narrowed pulmonary valve
  • Hunter-McAlpine syndrome: A very rare dominantly inherited syndrome characterized mainly by premature fusion of skull bones, mental retardation, small mouth, short stature and finger and toe anomalies.
  • Hydrocephalus -- craniosynostosis -- bifid nose: A very rare disorder characterized mainly by a buildup of fluid inside the skull, premature fusion of skull bones and a bifid nose.
  • Hydroxychloroquine -- Teratogenic Agent: There is evidence to indicate that exposure to Hydroxychloroquine (an antimalarial drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Hyper IgE: Inherited immunodeficiency disorders involving excessive production of IgE and frequent bacterial (staphylococcal) infections mainly involving the skin as well as other problems. Recessively inherited forms of the condition tend to be more serious with bone problems.
  • Hypomandibular faciocranial dysostosis: A very rare syndrome characterized mainly by very underdeveloped upper and lower jaw as well as a very small, absent or small tongue.
  • Iida-Kannari syndrome: A rare congenital disorder characterized by joint contractures, scoliosis, cleft palate, abnormal ears and premature fusion of skull bones.
  • Imaizumi Kuroki syndrome: A very rare syndrome characterized mainly by premature skull fusion and forearm abnormalities.
  • Jackson-Weiss Syndrome: A rare inherited disorder involving bone abnormalities such as fusion of upper foot bones and premature fusion of skull bones which prevents the skull from growing normally. Symptoms can range from mild to severe.
  • Job syndrome: An immunodeficiency disorder characterized by excessive production of IgE and frequent bacterial infections mainly involving the skin.
  • Kaplan-Plauchu-Fitch syndrome: A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities.
  • Kleeblattschaedel syndrome: A very rare syndrome characterized mainly by a head the is somewhat cloverleaf shaped.
  • Kurczynski-Casperson syndrome: A very rare syndrome characterized mainly by premature fusion of skull bones, abnormal ears and webbing of the last two toes.
  • Lambdoid synostosis familial: Premature fusion of certain skull bones that results in the back of the head being flat. In familial cases, it tends to run in families and other abnormalities are occasionally associated.
  • Loeys-Dietz syndrome: A very rare syndrome characterized mainly by a bulge in the aorta (aneurysm), wide set eyes, cleft palate, divided uvula and twisted arteries.
  • Lowry syndrome: A rare disorder characterized by the premature fusion of skull bones, absent or defective lower leg bone (fibula) and various other abnormalities.
  • Lowry-Maclean syndrome: A very rare syndrome characterized mainly by mental retardation, retarded growth, glaucoma, congenital heart defects and premature fusion of skull bones.
  • Maroteaux-Fonfria syndrome: A rare congenital disorder characterized by extra little fingers and extra big toes as well as the normal features associated with Apert syndrome.
  • McGillivray syndrome: A very rare syndrome characterized mainly by heart defects, skull and facial abnormalities and ambiguous genitalia.
  • Mental retardation -- anophthalmia -- craniosynostosis: A very rare syndrome characterized mainly by mental retardation, absent eyes and premature fusion of skull bones.
  • Metronidazole -- Teratogenic Agent: There is evidence to indicate that exposure to Metronidazole during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Montefiore syndrome: A very rare syndrome characterized mainly by skull, facial, heart and digital abnormalities.
  • Multiple endocrine abnormalities -- adenylyl cyclase dysfunction: A rare syndrome characterized by an enzyme defect (adenylyl cyclase) and a number of endocrine abnormalities.
  • Obesity, hypothyroidism, craniosynostosis, cardial hypertrophy, colitis and intellectual deficiency: A rare syndrome characterized by a variety of features including obesity, hypothyroidism, premature fusion of skull bones, enlarged heart, colitis and mental retardation. The two reported cases both involved the development of HELLP syndrome during the mother's pregnancy.
  • Oculopalatoskeletal syndrome: A very rare syndrome characterized mainly by eye, mouth palate and skeletal abnormalities.
  • Osteoglophonic dwarfism: A form of dwarfism characterized by premature fusion of skull bones, short limbs and digits, facial abnormalities and bone development anomalies.
  • Partial 7p Monosomy: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
  • Pfeiffer Syndrome Type I: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity. Type I is the mildest of the three Pfeiffer Syndrome subtypes.
  • Pfeiffer Syndrome Type III:
  • Phenacetin -- Teratogenic Agent: There is evidence to indicate that exposure to Phenacetin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Piepkorn karp hickoc syndrome: A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.
  • Polymicrogyria -- turricephaly -- hypogenitalism: A very rare syndrome characterized mainly by abnormal brain structure (polymicrogyria), cone shaped head and underdeveloped genitalia.
  • Premature Birth: Early delivery of a fetus (before 37th week).
  • Pseudoaminopterin syndrome: A very rare condtion characterized by mental and physical retardation, skull abnormalities and skeletal defects. The symptoms observed are similar to those caused by aminopterin which was once used to induce abortions but in the pseudo form there is no evidence of exposure to aminopterin.
  • Robinow Sorauf syndrome: A rare disorder characterized by facial and dental abnormalities as well as a partial or complete duplication of the end bone of the big toe.
  • SCARF syndrome: A rare syndrome characterized mainly by skeletal abnormalities, loose skin, premature fusion of skull bones, ambiguous genitalia, psychomotor retardation and facial abnormalities.
  • Saethre-Chotzen syndrome, chromosome 7 p15.3p21.3: A rare genetic disorder characterized by finger anomalies and premature joining of certain skull bones during development which has an impact on the shape of the head and face. There appears to be considerably variability of symptoms and clinical features of the disorder depending on the exact size and location of the portion of chromosomal material deleted. In this particular form, the chromosomal material deleted is located on chromosome 7 p15.3p21.3.
  • Saethre-Chotzen syndrome, chromosome 7 p21.1p21.3: A rare genetic disorder characterized by finger anomalies and premature joining of certain skull bones during development which has an impact on the shape of the head and face. There appears to be considerably variability of symptoms and clinical features of the disorder depending on the exact size and location of the portion of chromosomal material deleted. In this particular form, the chromosomal material deleted is located on chromosome 7 p21.1p21.3.
  • Sakati syndrome: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • Samson-Gardner syndrome: A very rare syndrome characterized mainly by premature fusion of skull bones, small skull, elbow fusion and thumb abnormalities. There is also an abnormal sack of fluid between the brain and the skull.
  • Seckel syndrome 3: Seckel syndrome is a rare inherited disorder mainly involving retarded growth, mental retardation, small head and a facial appearance resembling a bird. It is often referred to as bird-headed dwarfism. There are three subtypes of the disorder with type 1 being the most severe.
  • Short ribs -- craniosynostosis -- polysyndactyly: A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.
  • Short stature deafness neutrophil dysfunction: A very rare syndrome characterized by short stature, deafness and frequent infections due to abnormal neutrophils.
  • Shprintzen-Golberg craniosynostosis: A very rare syndrome characterized by premature fusion of skull bones and a Marfanoid appearance, skeletal anomalies and learning problems.
  • Skeletal dysplasia -- mental retardation: A rare recessively inherited disorder characterized mainly by mental retardation, a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Skeletal symptoms: Symptoms affecting the skeletal system such as the bones.
  • Skull pain: Headache is one of the most common symptoms encountered on a daily basis by the physician.
  • Skull symptoms: Symptoms affecting the skull surrounding the brain.
  • Sumatriptan -- Teratogenic Agent: There is evidence to indicate that exposure to Sumatriptan during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Symphalangism -- brachydactyly -- craniosynostosis: A very rare syndrome characterized mainly by the association of short digits, premature fusion of skull bones and fused joints in digits.
  • Thanos syndrome: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus).
  • Thanos-Stewart-Zonana Syndrome: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using aminoglycosides as they can have a negative impact on hearing.
  • Thong-Douglas-Ferrante syndrome: A very rare syndrome characterized mainly by short stature, deafness and a blood abnormality.
  • Trigonocephaly -- bifid nose -- acral anomalies: A rare syndrome characterized mainly by a prominent triangular shaped forehead, short head, bulbous nose, small jaw, large mouth, poor muscle tone and foot abnormalities.
  • Trigonocephaly -- broad thumbs: A rare syndrome characterized mainly by broad thumbs and a prominent triangular shaped forehead.
  • Tsukuhara syndrome: A very rare syndrome characterized mainly by a curved spine, premature fusion of skull bones and a small head.
  • Valproic Acid -- Teratogenic Agent: There is evidence to indicate that exposure to Valproic Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Ventruto Digirolamo Festa syndrome: A rare syndrome characterized primarily by premature fusion of skull bones and finger, toe and hip abnormalities.
  • WAGR Syndrome: A syndrome that is due to the deletion of chromosome 11.
  • Warman Mulliken Hayward syndrome: This syndrome is a form of craniosynostosis
  • Wilms tumor -- aniridia -- genitourinary anomalies -- mental retardation: A syndrome resulting from deletion of genetic material from chromosome the short arm of chromosome 11 (11p13). The characteristic symptoms are partial or complete absence of iris, genitourinary anomalies, mental retardation and Wilms' tumor. The specific range and severity of symptoms is variable depending on the size and exact location of the genetic material that is missing.

Conditions listing medical symptoms: Premature fusion of skull bones:

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