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387 Possible Causes for Hypoplastic Phalanges

  • Spinal Stenosis

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

  • Poland Syndrome

    Several other radiologic features of the hypoplastic middle phalanges were documented, such as the central nidus, the rounded or truncated appearance, and the cone-shaped[] The middle phalanges are hypoplastic or absent so that effectively there is only one interphalangeal joint. The syndactyly is usually incomplete and simple.[]

  • Patau Syndrome

    […] terminal phalanges.[] […] 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[]

  • Hirschsprung Disease Type D-Brachydactyly Syndrome

    phalanges of the hallux Short bone of big toe [ more ] 0010111 Percent of people who have these symptoms is not available through HPO Short thumb Short thumbs Small thumbs[] […] fingernail Small fingernail Underdeveloped fingernail [ more ] 0001804 Short distal phalanx of the thumb Short outermost bone of the thumb 0009650 Short phalanx of hallux Hypoplastic[] […] hypoplastic toenail Absent/small toenails Absent/underdeveloped toenails [ more ] 0010624 30%-79% of people have these symptoms Brachydactyly Short fingers or toes 0001156 Hypoplastic[]

  • Amniotic Band

    phalanges, amputation of an extremity, syndactyly, polydactyly, and anomalous attachment of an extremity).[] […] of the corpus callosum, holoprosencephaly), eye anomalies (anophthalmia, microphthalmia, and microcornea), and extremity and digit anomalies (talipes equinovarus, absent/hypoplastic[]

  • Lissencephaly

    Metacarpal bones were shortened with hypoplastic distal phalanges.[] Neuropathological findings were concordant with the pattern described in type III lissencephaly: an agyric brain with hypoplastic brain stem and cerebellum, severe neuronal[]

  • Lethal Multiple Pterygium Syndrome

    The phalanges were hypoplastic. Chromosomes (cultured amniocytes) were normal (46,XY). Lethal Multiple Pterygium Syndrome 915 Fig. 2.[] Radiographic examination (Fig. 3) demonstrated broad clavicles and ribs, abnormal jaw angle, hypoplastic radii and phalanges, apparent cutaneous syndactyly of the fingers,[] phalanges; and dislocated hips with abnormal acetabular configuration.[]

  • Central Diabetes Insipidus

    […] terminal phalanges of fingers (OMIM: 601370).[] […] first described by Camera et al in 1993 in two patients with semilobar holoprosencephaly (HPE), craniosynostosis and abnormal small hands with cone-shaped epiphyses and hypoplastic[]

  • Fanconi Anemia

    The patient has a hypoplastic thumb with absent first metacarpal, hypoplastic phalanges and a pedunculated soft tissue connection to the lateral hand (arrow).[]

  • Dihydropyrimidinuria

    Dihydropyrimidinase deficiency is an autosomal recessive inborn error of metabolism characterised by the presence of dihydropyrimidinuria. Its clinical presentation is variable and has also been reported in asymptomatic subjects. We report the first case of dihydropyrimidinase deficiency in Hong Kong, which is also the[…][]

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