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1,025 Possible Causes for Cone-Shaped Epiphyses of Middle Phalanges, Delayed Bone Age, 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] As individuals with TRPS1 age, most exhibit delayed bone age and growth retardation, resulting in short stature.[rarediseases.org] At four years old, her weight was in 5th, height in 10th, and head circumference in 75th percentiles.[ijponline.biomedcentral.com]

  • 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] bone age before puberty (slow bone growth) Accelerated bone age after puberty Osteopenia (late-onset) (lower than normal bone density) Osteoarthritis (late-onset) Joint pain[nfed.org] As individuals with TRPS1 age, most exhibit delayed bone age and growth retardation, resulting in short stature.[rarediseases.org]

  • 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] Both presented poor growth and delayed bone age until about 13 years, followed by marked acceleration of bone age and stunted pubertal height spurt.[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]

    Missing: Short Stature - 5th-10th Percentile
  • 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] Acquired GHD presents with significant growth failure with maintenance of weight percentiles and delayed bone age.[ncbi.nlm.nih.gov] bone age 14 Hyperpigmentation 13 Muscle weakness 13 Acanthosis nigricans 10 “Accelerated” bone age 10 Sleep disturbances 7 Pubertal Delay 7 Hypercalcemia 6 Alkalosis 6 Hypokalemia[csrf.net]

    Missing: 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] The clavicles were barely seen and the calvarial bones were significantly less ossified than expected for gestational age.[ncbi.nlm.nih.gov] Deformed and short middle phalanges of the third, fourth, and fifth digits with cone-shaped epiphyses Other.[ncbi.nlm.nih.gov]

    Missing: Short Stature - 5th-10th Percentile
  • Skeletal Dysplasia

    Short metacarpals, especially the fourth and fifth; cone-shaped epiphyses. Figure 8. Trichorhinophalangeal syndrome II.[intechopen.com] , hypotonia and bony abnormalities including marked cranial sclerosis and sclerosis of the ribs and long bones, which evolved in severity in the son between the ages of 2[ncbi.nlm.nih.gov] A 14% of patients showed a low mean GH concentration during sleep, presenting also a markedly low IGF-1 level and marked delay of bone age [ 81 ].[intechopen.com]

    Missing: Short Stature - 5th-10th Percentile
  • Aarskog-Scott Syndrome

    The main findings are asynchronic and delayed bone age, shortened long tubular bones with wide metaphyses, brachyphalangy, hypoplasia of the middle phalanges of the fifth[ncbi.nlm.nih.gov] Weight was 10.10 kg (25th percentile), height 76 cm (10th percentile) and head circumference was 45.5 cm (5th percentile).[doi.org] Other Manifestations delayed puberty mild pectus excavatum prominent umbilicus INVESTIGATIONS: 1. Imaging Studies 1. Skeletal X-Rays delayed bone age MANAGEMENT: 1.[web.archive.org]

    Missing: Cone-Shaped Epiphyses of Middle Phalanges
  • Vitamin D Deficiency

    She presented with fractures during the first year-of-life followed by bone deformities, delayed development, failure-to-thrive, and pneumonias.[ncbi.nlm.nih.gov] […] tooth eruption (no incisors by aged 10 months, no molars by age 18 months) - Craniotabes (softening of skull bones) - Delayed closure of anterior fontanelle - Frontal bossing[starship.org.nz] At 1 year-of-age, biochemical studies of serum revealed marked hyperphosphatasemia together with low-normal calcium and low inorganic phosphate and 25-hydroxyvitamin D levels[ncbi.nlm.nih.gov]

    Missing: Cone-Shaped Epiphyses of Middle Phalanges Short Stature - 5th-10th Percentile
  • Geleophysic Dysplasia

    […] and abnormal shape of the proximal and middle phalanges.[bone-abstracts.org] Much delayed bone age and geleophysic dysplasia were found. Targeted next-generation sequencing was used to detect genetic mutations associated with skeletal dysplasia.[ncbi.nlm.nih.gov] […] infections Radiographic findings Delayed bone age Broad proximal phalanges Cone-shaped phalangeal epiphyses Shortened long tubular bones Small capital femoral epiphyses Establishing[ncbi.nlm.nih.gov]

    Missing: Short Stature - 5th-10th Percentile
  • Diabetes Mellitus Type 1

    Bone age delay was more pronounced in boys, and in children with long-term median HbAlc levels of 7.5 - 9.0%.[ncbi.nlm.nih.gov] Bone age was retarded by -0.27 /- 1.1 years in the whole group, but particularly in the adolescents at the end of puberty ( 16 years; -0.76 /- 1.29y).[ncbi.nlm.nih.gov] Data on somatic development in diabetic children are conflicting; therefore we studied bone age in 1788 children from Germany and Austria with type 1 diabetes.[ncbi.nlm.nih.gov]

    Missing: Cone-Shaped Epiphyses of Middle Phalanges Short Stature - 5th-10th Percentile

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