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32 Possible Causes for Bullet Shaped Phalanges

  • Mucopolysaccharidosis 2

    Skiagrams revealed that both siblings had abnormal metacarpals with cupping of distant metaphysis, bullet-shaped phalanges, irregular metaphysical margins of tibia and fibula[mjdrdypu.org]

  • Mucolipidosis Type 2

    […] are bullet-shaped. o Anterior beaking and wedging of the vertebrae occur.[medicaljournal.blogspot.com] […] shortening widened metaphyses varus deformity of humeral neck tilted distal ends of radius and ulna broadening of wrist brachyphalangia hypoplasia of carpal bones conical bullet-shaped[humpath.com] phalanges.[medicaljournal.blogspot.com]

  • Thanatophoric Dysplasia Glasgow Variant

    bullet-shaped phalanges cerebral anomalies temporal lobe heterotopia neuronal heterotopia megalencephaly cerebral gyral disorganization hippocampal malformation nuclear dysplasia[humpath.com] […] type 2 TD marked shortness and bowing of long bones ’french telephone receiver femurs’ flared and irregular metaphyses short metacarpal bones short metatarsal bones short phalanges[humpath.com]

  • Marshall-Smith Syndrome

    Full skeletal survey showed an advanced bone age, corresponding 18–24 mo and bullet-shaped phalanges.[nature.com] […] middle phalanges of the hand Bullet-shaped middle finger bones 0009845 Cerebral atrophy Degeneration of cerebrum 0002059 Choanal stenosis Narrowing of the rear opening of[rarediseases.info.nih.gov] […] opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ] 0001631 Autosomal dominant inheritance 0000006 Bullet-shaped[rarediseases.info.nih.gov]

  • Mucopolysaccharidosis 1H

    Hurler syndrome (MPS1H) is a progressive inborn error of mucopolysaccharide metabolism leading to premature death. Allogeneic hematopoietic cell transplantation (HCT) can achieve stabilization and improve long-term survival. However, large studies have shown that preparative regimen-related toxicity (RRT) and graft[…][ncbi.nlm.nih.gov]

  • Anauxetic Dysplasia

    […] with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia.[diseaseinfosearch.org] (D) Carpal and epiphyseal ossification is severely delayed and the middle phalanges are bullet shaped.[jmg.bmj.com] Very short and broad with small, late ossifying epiphyses and bullet-shaped middle phalanges Establishing the Diagnosis The diagnosis of cartilage-hair hypoplasia – anauxetic[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 6

    Patient Data Age: 3 Gender: Male Bullet-shaped metacarpal bones and phalanges. Slanting/ convergent distal radius and ulna.[radiopaedia.org]

  • Distal Symphalangism

    Abnormality of the epiphyses of the distal phalanx of finger Aplasia/Hypoplasia of the distal phalanges of the hand Broad distal phalanx of finger Bullet-shaped distal phalanges[rgd.mcw.edu]

  • Thanatophoric Dysplasia 2

    bullet-shaped phalanges cerebral anomalies temporal lobe heterotopia neuronal heterotopia megalencephaly cerebral gyral disorganization hippocampal malformation nuclear dysplasia[humpath.com] […] type 2 TD marked shortness and bowing of long bones ’french telephone receiver femurs’ flared and irregular metaphyses short metacarpal bones short metatarsal bones short phalanges[humpath.com]

  • Thanatophoric Dysplasia

    bullet-shaped phalanges cerebral anomalies temporal lobe heterotopia neuronal heterotopia megalencephaly cerebral gyral disorganization hippocampal malformation nuclear dysplasia[humpath.com] […] type 2 TD marked shortness and bowing of long bones ’french telephone receiver femurs’ flared and irregular metaphyses short metacarpal bones short metatarsal bones short phalanges[humpath.com]

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