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81 Possible Causes for Cone-Shaped Epiphyses of Middle Phalanges, One Third of Patients Represent New Mutations, Short Stature - 5th-10th Percentile

  • Cleidocranial Dysplasia

    epiphyses, short middle phalanges of the 5 th finger, anomalies of tarsal, metatarsal, carpal, and metacarpal II and V bones, epiphyseal lines in the long bones may be found[indjos.com] Deformed and short middle phalanges of the third, fourth, and fifth digits with cone-shaped epiphyses Other.[ncbi.nlm.nih.gov] […] absent pneumatization of paranasal, frontal and mastoid sinuses, aplastic or hypoplastic clavicle, hypoplastic scapulae, hypoplasia of the pelvis, brachydactyly, multiple cone-shaped[indjos.com]

    Missing: Short Stature - 5th-10th Percentile
  • Trichorhinophalangeal Syndrome

    The radiographic findings include cone-shaped epiphyses of the middle phalanges with shortened metacarpals. Genetic findings include deletion of chromosome band 8q24.12.[ncbi.nlm.nih.gov] epiphyses of the middle phalanges of some fingers and toes. [2] : 578 [3] It has been associated with TRPS1. [4] See also [ edit ] Skin lesion List of cutaneous conditions[en.wikipedia.org] […] nails 0001598 Cone-shaped epiphyses of the middle phalanges of the hand Cone-shaped end part of the middle hand bones 0010259 Cone-shaped epiphyses of the proximal phalanges[rarediseases.info.nih.gov]

    Missing: One Third of Patients Represent New Mutations Short Stature - 5th-10th Percentile
  • Trichorhinophalangeal Syndrome Type 1 and 3

    epiphyses of the middle phalanges of the hand Cone-shaped end part of the middle hand bones 0010259 Coxa magna 0003279 Delayed skeletal maturation Delayed bone maturation[rarediseases.info.nih.gov] At four years old, her weight was in 5th, height in 10th, and head circumference in 75th percentiles.[ijponline.biomedcentral.com] […] abnormalities Neurological abnormality [ more ] 0000707 Accelerated bone age after puberty 0002805 Autosomal dominant inheritance 0000006 Brachydactyly Short fingers or toes 0001156 Cone-shaped[rarediseases.info.nih.gov]

    Missing: One Third of Patients Represent New Mutations
  • Distal Symphalangism

    epiphyses of middle phalanges of fingers, and absence of scaphoid, trapezium, trapezoid, and pisiform bones.[ncbi.nlm.nih.gov] Coxa valga Coxa vara Dislocated hip Cone shaped epiphyses Fibulae a-/hypoplastic/under-/unossified Cone-shaped epiphyses of proximal phalanges Cone-shaped epiphyses of middle[head-face-med.biomedcentral.com] Both patients had additional clinical manifestations such as narrowing of the zygomatic arch, dental pulp stone, microdontia of a mandibular permanent central incisor, cone-shaped[ncbi.nlm.nih.gov]

    Missing: One Third of Patients Represent New Mutations Short Stature - 5th-10th Percentile
  • Trichorhinophalangeal Dysplasia Type 1

    Radiographic features include: cone-shaped epiphyses of the middle phalanges of the hands and feet, present in almost all individuals with TRPS and detectable typically after[ijponline.biomedcentral.com] epiphyses of the middle phalanges of some fingers and toes. [2] : 578 [3] It has been associated with TRPS1. [4] See also [ edit ] Skin lesion List of cutaneous conditions[en.wikipedia.org] […] nails 0001598 Cone-shaped epiphyses of the middle phalanges of the hand Cone-shaped end part of the middle hand bones 0010259 Cone-shaped epiphyses of the proximal phalanges[rarediseases.info.nih.gov]

    Missing: One Third of Patients Represent New Mutations
  • Growth Failure

    Figure 2: Minimal cupping at the phalangeal basis, short phalanges, short and broad metacarpal and metatarsal bones, cone-shaped epiphysis and metaphyseal cupping at middle[advbiores.net] […] and distal phalanges.[advbiores.net] Knee metaphyseal flaring with mild epiphyseal dysplasia and slender diaphysis of long bones.[advbiores.net]

    Missing: One Third of Patients Represent New Mutations Short Stature - 5th-10th Percentile
  • Microdontia

    They also had cone-shaped epiphyses of middle phalanges 2 and 4, radial-ray carpal-bone anomalies, narrowing of the zygomatic arch, and dental pulp stones.[omim.org] epiphyses of the proximal phalanges of the hand Accelerated bone age after puberty Spastic ataxia Coxa magna Abnormally low-pitched voice Cone-shaped epiphyses of the middle[mendelian.co] epiphyses of proximal phalangesDorsal wedging of vertebral bodiesSome phalanges short and deformedNarrow/trapezoid iliac wings (lack of flare)Cone-shaped epiphyses of middle[ncbi.nlm.nih.gov]

    Missing: One Third of Patients Represent New Mutations Short Stature - 5th-10th Percentile
  • Brachydactyly

    Physical therapy and/or plastic surgery may be indicated if the condition affects hand function. 0010026 Cone-shaped epiphyses of the middle phalanges of the hand Cone-shaped[rarediseases.info.nih.gov] Phalanges revealed cone-shaped epiphyses at proximal ends.[ojrd.biomedcentral.com] cone shaped deformities of the affected epiphyses.[jmg.bmj.com]

    Missing: One Third of Patients Represent New Mutations Short Stature - 5th-10th Percentile
  • Autosomal Recessive Deafness 42

    , and cone-shaped epiphyses of the middle and distal phalanges.[karger.com] […] and hypoplastic distal phalanges (Fig. 2 B), cone-shaped epiphyses of the middle and distal phalanges, the classical wide and slanted proximal tibia metaphyses and the left[karger.com] Plain radiographs revealed postaxial hexadactyly without fusion of metacarpals or fingers (Fig. 2 A), distalward shortening of the tubular bones with short broad middle phalanges[karger.com]

    Missing: One Third of Patients Represent New Mutations Short Stature - 5th-10th Percentile
  • Asphyxiating Thoracic Dysplasia

    The middle and distal phalanges have cone-shaped epiphyses in later childhood.[mirc.luriechildrens.org] epiphyses and early fusion between the epiphyses and metaphyses of the distal and middle phalanges Short distal and middle phalanges Varying shortening of extremities relative[emedicine.medscape.com] The major characteristic radiographic findings consist of small thorax, triradiate acetabulum, short tabular bones, and short middle and distal phalanges with cone shaped[czytelniamedyczna.pl]

    Missing: One Third of Patients Represent New Mutations Short Stature - 5th-10th Percentile