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279 Possible Causes for Hypoplastic Phalanges, Mutation Carriers May Show Toxicity to 5-Fluorouracil

  • Dihydropyrimidinuria

    Deficiency of dihydropyrimidine dehydrogenase or dihydropyrimidinase, enzymes that catalyze the breakdown of pyrimidine chemotherapy agents such as 5-fluorouracil, may cause serious adverse reactions to these agents. We attempted to establish the reference range for urinary pyrimidines in adults to detect[…][ncbi.nlm.nih.gov]

  • Spinal Stenosis

    […] due to short metacarpals and hypoplastic terminal phalanges, thoracolumbar kyphoscoliosis, narrow transverse measurements of most vertebrae with prominent coccyx, spinal[ncbi.nlm.nih.gov] Recognisable skeletal abnormalities include hypoplastic facial bones, hypoplastic clavicles, narrow and anteriorly sloping shoulders, bowing of both forearm bones, brachydactyly[ncbi.nlm.nih.gov]

    Missing: Mutation Carriers May Show Toxicity to 5-Fluorouracil
  • Gorlin-Chaudhry-Moss Syndrome

    Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly , absent flexion crease of the thumbs, single transverse palmar creases[rarediseases.info.nih.gov] […] distal phalanges with hypoplastic nails, a widely open anterior fontanel, facial dysmorphisms, and craniosynostosis.[uniprot.org] Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases[malacards.org]

    Missing: Mutation Carriers May Show Toxicity to 5-Fluorouracil
  • Carpal Instability

    Thumb Reconstructed with a Vascularized Metatarso-Phalangeal Joint Transfer: A Case Report with 28 years of Followup Hand Surgery 14: 63-68, 2009 Preventing Postoperative[rinko-hp.com] Functional Recovery and Return to Work after Mutilating Hand Injuries: Usefulness of Hand Injury Severity Score Journal of Hand Surgery 34A: 880-885, 2009 A Blauth IIIB Hypoplastic[rinko-hp.com]

    Missing: Mutation Carriers May Show Toxicity to 5-Fluorouracil
  • Cooks Syndrome

    Onychonychia Hypoplastic Distal Phalanges “Onychonychia Hypoplastic Distal Phalanges” In our body, the autosomal dominant dis-order, Onychonychia Hypoplastic Distal Phalanges[wellnessadvocate.com] We present a case and discussion of a patient with congenital anonychia, absent distal phalanges, and rudimentary hypoplastic middle phalanges and brachydactyly, consistent[ncbi.nlm.nih.gov] In autosomal dominant brachydactyly with absence of middle phalanges and hypoplastic nails, the changes in the middle phalanges are distinctive.[ijpd.in]

    Missing: Mutation Carriers May Show Toxicity to 5-Fluorouracil
  • Patau Syndrome

    […] terminal phalanges.[ncbi.nlm.nih.gov] […] should be more specifically defined as duplicated nails, absent flexion creases, non-glabrous skin on the palmar surface, reduced movement at the interphalangeal joints and hypoplastic[ncbi.nlm.nih.gov]

    Missing: Mutation Carriers May Show Toxicity to 5-Fluorouracil
  • Fetal Hydantoin Syndrome

    Fetal Hydantoin syndrome mnemonic - PHENytoin Fetal hydantoin syndrome involves microcephaly, dysmorphic craniofacial features, hypoplastic nails, hypoplastic distal phalanges[medicowesome.com] […] nails and distal phalanges ( birth defects ).[ipfs.io] […] nails and distal phalanges (birth defects).[superphotoscannerwallpaper.blogspot.com]

    Missing: Mutation Carriers May Show Toxicity to 5-Fluorouracil
  • Familial Infantile Myoclonic Epilepsy

    […] or absent nails, small or absent distal phalanges of hands and feet.[genecards.org] […] onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome (DOORS) [MIM:220500]: A syndrome characterized by sensorineural deafness, mental retardation, hypoplastic[genecards.org]

    Missing: Mutation Carriers May Show Toxicity to 5-Fluorouracil
  • Marfan Syndrome

    […] sloping orbital roofs, disharmonic maturation of ossification centers, dislocation of the radial head, anterior subluxation of the wrists, thin proximally placed thumbs, phalangeal[ncbi.nlm.nih.gov] […] hypotubulation and sclerosis, hip subluxation, femur fracture, genu recurvatum, talipes equinovarus, metatarsus adductus, congenital bowing of the ribs and long bones, and hypoplastic[ncbi.nlm.nih.gov]

    Missing: Mutation Carriers May Show Toxicity to 5-Fluorouracil
  • Cleidocranial Dysplasia

    […] terminal phalanges Synonyms & Alternative Spellings[web.archive.org] […] terminal phalanges Promoted articles (advertising)[radiopaedia.org] […] hypoplasia of iliac bones absent/delayed ossification of the pubic bone (pseudo-widening of the symphysis pubis) Limbs short / absent fibula short / absent radius coxa vara hypoplastic[web.archive.org]

    Missing: Mutation Carriers May Show Toxicity to 5-Fluorouracil

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