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20 Possible Causes for Prenatal and Postnatal Short Stature, Slender Long Bones

  • Kenny-Caffey Syndrome Type 1

    […] and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to[malacards.org] […] clavicles ; Proportionate short stature ; Recurrent bacterial infections ; Seizures ; Short foot ; Short palm ; Slender long bone ; Small hand ; Tetany ; Thin clavicles ;[mousephenotype.org] Orpha Number: 93324 Disease definition A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary[rarediseases.info.nih.gov]

  • 3M Syndrome Type 1

    In total, 43 patients having short stature syndrome in 37 Yakut families with autosomal recessive prenatal and postnatal nonprogressive growth failure and facial dysmorphism[scienceopen.com] Radiographic studies showed slender long bones and ribs, a narrow pelvis and foreshortened vertebral bodies.[ncbi.nlm.nih.gov] Increased radiolucency is unusual. 4 The metacarpal index, used to document slender long bones, is usually high.[ncbi.nlm.nih.gov]

  • Microcephalic Osteodysplastic Primordial Dwarfism Types 1 and 3

    […] of recognizable maternal or placental pathology and by the failure of postnatal catch-up growth resulting in significant proportionate short stature.[blueprintgenetics.com] long bone ; Sloping forehead ; Strabismus ; Talipes ; Thick upper lip vermilion ; Thin long bone diaphyses ; Thin upper lip vermilion ; Ulnar deviation of finger Associated[mousephenotype.org] […] of the forearm 0002986 Short 1st metacarpal Shortened 1st long bone of hand 0010034 Short distal phalanx of finger Short outermost finger bone 0009882 Slender long bone Long[rarediseases.info.nih.gov]

  • 3M Syndrome

    In total, 43 patients having short stature syndrome in 37 Yakut families with autosomal recessive prenatal and postnatal nonprogressive growth failure and facial dysmorphism[scienceopen.com] Additional skeletal abnormalities, such as unusually slender long bones in the arms and legs; tall, narrow spinal bones (vertebrae); or slightly delayed bone age may be apparent[ghr.nlm.nih.gov] In some, specific radiological findings will be found, including slender/ 'gracile' long bones, relatively tall vertebral bodies, foreshortening of vertebral bodies, small[orpha.net]

  • Humero-Radial Synostosis

    - prenatal / intrauterine dwarfism Short stature - postnatal Short limbs Skin dimples Pointed chin Depressed nasal bridge Cleft nose / bifid tip Thin lips Long philtrum Low[mediscansystems.org] […] eyelashes Clitoral hypertrophy Increased body weight Abnormality of the outer ear Slender long bone Elbow dislocation Genu varum Abnormality of pelvic girdle bone morphology[mendelian.co] Traits Autosomal dominant Other exogenous cause / disruption Other cause Small for gestational age (IUGR) Asymmetry of the body / hemihypertrophy / hemiatrophy Short stature[mediscansystems.org]

  • Shaheen Syndrome

    Data in the literature show variable efficacy of GH in the treatment of short stature. We report four Emirati siblings with the condition.[edmcasereports.com] Classical radiological features include typical slender long bones and foreshortened vertebral bodies.[edmcasereports.com] The index case is a 10-year-old boy with characteristic features, including prenatal and postnatal growth failure, a triangular face, a long philtrum, full lips and prominent[edmcasereports.com]

  • Hypochondroplasia

    Hypochondroplasia is an autosomal dominant skeletal dysplasia expressing postnatal onset of short stature with mild rhizomelic shortening of the limbs.[ncbi.nlm.nih.gov] . In hypothyroidism, epiphyseal changes may simulate PSACH, but the dwarfism is symmetrical involving all long bones with slender shafts and endosteal scalloping.[slideshare.net] This manifestation leads to restricted prenatal diagnosis of the disorder.[ncbi.nlm.nih.gov]

  • IMAGE Syndrome

    Firstly we have to go through that short stature syndrome and we must think unilateral, disproportionate limb hypoplasia and characteristic facial appearance.[omicsonline.org] Characteristic radiologic findings are slender long bones, thin ribs and tall vertebral bodies that become foreshortened over time, spina bifida occulta, small pelvis, small[omicsonline.org] For example the 3-M syndrome is characterized [ 11 - 14 ] by prenatal- and postnatal growth retardation, peculiar facial features (relatively large head, frontal bossing,[omicsonline.org]

  • Platyspondyly

    […] and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis.[ncbi.nlm.nih.gov] […] finger Abnormal vertebral morphology Camptodactyly Abnormality of the metaphysis Radial deviation of finger Short long bone Limitation of joint mobility Micromelia Myopia[mendelian.co] […] cardiac septum morphology Deeply set eye Small for gestational age Microtia Small hand Autistic behavior Bifid uvula Abnormally ossified vertebrae Progressive bowing of long[mendelian.co]

  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal recessive GROWTH: [Height]; Short stature, proportionate; [Weight]; Average birth weight 1540g; [Other]; Prenatal growth retardation; Postnatal[findzebra.com] Other skeletal anomalies include dislocation of the elbow, slender ribs and long bones, abnormal modelling of the glenoid fossas with hooked clavicles, and clinodactyly.[findzebra.com] long bones; Genu valgum or genu varum; [Hands]; Fifth finger clinodactyly; Small hands; Camptodactyly; [Feet]; Cutaneous syndactyly (2nd-3rd, 4th-5th); Talipes equinovarus[findzebra.com]

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