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105 Possible Causes for Brachydactyly of the Foot, Depressed Nasal Tip, Skeletal Dysplasia

  • Robinow Syndrome

    Rob·i·now syn·drome ( rob'i-now ), [MIM*180700] a skeletal dysplasia characterized by bulging forehead, hypertelorism, depressed nasal bridge (so-called fetal face), wide[medical-dictionary.thefreedictionary.com] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com] […] and deformed pronated foot.[ncbi.nlm.nih.gov]

  • Kniest Dysplasia

    The advances referred to in this chapter, particularly molecular genetics and database access, have transformed the diagnosis of skeletal dysplasias.[books.google.com] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com] Keywords Club Foot Skeletal Dysplasia COL2A1 Gene Otosclerosis Brachydactyly Background Type II collagenopathies range from lethal forms (Achondrogenesis II, Hypochondrogenesis[ojrd.biomedcentral.com]

  • Thanatophoric Dysplasia

    Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for six related skeletal dysplasia conditions: achondroplasia, hypochondroplasia, thanatophoric dysplasia[ncbi.nlm.nih.gov] The pregnancy was subsequently terminated, and a 480-g malformed fetus was delivered with macrocephaly, depressed nasal bridge, short upturned nasal tip, hypoplastic midface[ncbi.nlm.nih.gov] […] syndrome, Hand-foot-uterus syndrome HOXD13 Brachydactyly type D, Brachydactyly-syndactyly syndrome, Syndactyly, Synopolydactyly, Synopolydactyly with clefting HSPG2 Dyssegmental[genda.com.ar]

  • Metaphyseal Acroscyphodysplasia

    11 fetal skeletal system part 2 dr ahmed esawy FETAL SKELETAL SYSTEM. normal,basic paramters and algorithms fetal Skeletal Dysplasia Thanatophoric Dwarfism • Achondroplastic[slideshare.net] The differential diagnosis of GNAS- orPDE4D-related disorders from others requires the accurate assess-ment for features of acrodysostosis type 2 (depressed nasal root,short[docslide.us] […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[se-atlas.de]

  • Schwartz-Lelek Syndrome

    dysplasia terminology and diag nosis, and has proved of immense value to its users.[books.google.com] nasal tip Abnormality of the upper urinary tract Subcortical cerebral atrophy Enlarged cisterna magna Cortical dysplasia Shawl scrotum Delayed speech and language development[mendelian.co] brachydactyly of toes[csbg.cnb.csic.es]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    Home Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.[hgsc.bcm.edu] tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more[rarediseases.info.nih.gov] , and distinct face Brachydactyly-hypertension syndrome Microcephaly-oculo-digito-esophageal-duodenal syndrome Hand-foot-genital syndrome Rubinstein-Taybi syndrome Brachydactyly[emedicine.medscape.com]

  • Atelosteogenesis Type 2

    Thanatophoric dysplasia and achondrogenesis account for 62% of all lethal skeletal dysplasias. Achondroplasia is the most common nonlethal skeletal dysplasia.[thehealthscience.com] nasal tip and large, prominent or cupped ears.[blueprintgenetics.com] , and distinct face Brachydactyly-hypertension syndrome Microcephaly-oculo-digito-esophageal-duodenal syndrome Hand-foot-genital syndrome Rubinstein-Taybi syndrome Brachydactyly[emedicine.medscape.com]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] hypoplasia CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA chondrodysplasia Blomstrand type Chondrodysplasia[rgd.mcw.edu] Midface hypoplasia, depressed nasal bridge in childhood, anteverted nares (tipped or bent nasal cavity openings), split uvula, cleft hard palate, micrognathia, Pierre-Robin[encyclopedia.com] […] syndrome, Hand-foot-uterus syndrome HOXD13 Brachydactyly type D, Brachydactyly-syndactyly syndrome, Syndactyly, Synopolydactyly, Synopolydactyly with clefting HSPG2 Dyssegmental[genda.com.ar]

  • Postaxial Oligodactyly, Tetramelic

    […] isolated skeletal anomalies encountered in fetal imaging practice, and discuss imaging features and differential diagnosis for the most frequent skeletal dysplasias that[obgyn.mhmedical.com] nasal tip Panhypopituitarism Bilateral cleft lip Bilateral cleft lip and palate Median cleft lip Hypopituitarism Omphalocele Spastic diplegia Dental malocclusion Spontaneous[mendelian.co] Generalized hypotonia Broad foot Spinal canal stenosis Muscle weakness Hyperhidrosis Fatigue Hernia Arthralgia Joint laxity Arachnodactyly Stroke Joint hypermobility Scarring[mendelian.co]

  • Ulna Metaphyseal Dysplasia Syndrome

    Thanatophoric dysplasia and achondrogenesis account for 62% of all lethal skeletal dysplasias. Achondroplasia is the most common non-lethal skeletal dysplasia.[patient.info] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com] […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[se-atlas.de]

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