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276 Possible Causes for Rhizomelic Shortening

  • Retinitis Pigmentosa with Situs Inversus

    This report describes a young girl and her cousin presenting with postnatal short stature, strabismus, photophobia, retinitis pigmentosa, short neck, rhizomelic shortening[scinapse.io]

  • X-Linked Dominant Chondrodysplasia Type Chassaing-Lacombe

    UniProtKB/Swiss-Prot : 75 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia: A disease characterized by chondrodysplasia, severe platyspondyly, hydrocephaly, and facial features with microphthalmia. Bone abnormalities include a distinctive metaphyseal cupping of the[…][malacards.org]

  • Humero-Radial Synostosis

    shortening, cognitive impairment, fused C5 & C9 vertebrae, soft tissue/bony syndactyly of fingers/toes Proptosis, stiffness of elbows, normal extremities, mandibular prognathism[quizlet.com] Peromelia involving the upper limbs (HP:0009814) 22.1.9 Rhizomelia of upper limbs Rhizomelic shortening HP:0002968 - 22.1.10 Proportionate short arms - - There are a number[compbio.charite.de] […] recessive Gene Map Locus Not Mapped Humeroradial Synostosis with Craniofacial Anomalies is an extremely rare skeletal condition characterized by humero-radial synostosis, rhizomelic[cags.org.ae]

  • Autosomal Dominant Larsen Syndrome

    Note rhizomelic shortening of limbs, disproportionately short stature, enlarged joints, and contractures.[emedicine.medscape.com] Rhizomelic shortening of the limbs, severe clubfoot deformity, and atlantoaxial instability are common to both conditions.[rrnursingschool.biz] Note relatively normal-sized trunk, a large head, rhizomelic shortening of the limbs, lumbar lordosis, and trident hands.[emedicine.medscape.com]

  • Atelosteogenesis

    Both children had typical manifestations of AO type I, with severe rhizomelic shortening of the extremities, limited elbow and knee extension with mild webbing, pectus excavatum[ncbi.nlm.nih.gov]

  • Mild Dysmorphic Features

    She presented with mild dysmorphic features at birth, including down-slanting palpebral fissures, a depressed and creased nasal bridge, and mild rhizomelic shortening of the[indiana.pure.elsevier.com]

  • Antecubital Pterygium

    Peromelia involving the upper limbs (HP:0009814) 22.1.9 Rhizomelia of upper limbs Rhizomelic shortening HP:0002968 - 22.1.10 Proportionate short arms - - There are a number[compbio.charite.de] Rhizomelic shortening of the limbs, severe clubfoot deformity, and atlantoaxial instability are common to both conditions.[rrnursingschool.biz] There are a relatively large cranium, flat face with micrognathia, small thorax, prominent abdomen, rhizomelic limb shortening and bowing, abnormal hands, and clubfeet. b[rrnursingschool.biz]

  • Metaphyseal Anadysplasia

    A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and[abcam.com]

  • Upper Limb Hypertrophy

    Peromelia involving the upper limbs (HP:0009814) 22.1.9 Rhizomelia of upper limbs Rhizomelic shortening HP:0002968 - 22.1.10 Proportionate short arms - - There are a number[compbio.charite.de]

  • Thanatophoric Dysplasia Glasgow Variant

    Postnatal evaluations revealed rhizomelic shortening of the limbs and a small chest circumference.[jim.bmj.com] Rhizomelic chondrodysplasia punctata (RCDP) is a disorder of peroxisome biogenesis.[ncbi.nlm.nih.gov] shortening of the long bones Irregular metaphyses of the long bones Platyspondyly Small foramen magnum with brain stem compression CNS abnormalities including temporal lobe[ncbi.nlm.nih.gov]

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