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69 Possible Causes for Prenatal and Postnatal Short Stature, Skeletal Dysplasia

  • Bloom Syndrome

    These patients often have prenatal or postnatal growth retardation, short stature, malar hypoplasia, telangiectatic erythema of the face and other regions, hypo- and hyperpigmentation[] CHST3 -Related Skeletal Dysplasia Andrea Superti-Furga and Sheila Unger. Initial Posting: September 1, 2011; Last Update: January 31, 2019.[]

  • Turner Syndrome

    […] counseling and management after the diagnosis was made either prenatally or postnatally.[] dysplasia.[] Patients have been referred primarily for diagnostic evaluation (because of congenital lymphedema, dysmorphic features, short stature, or primary amenorrhea) and for genetic[]

  • Skeletal Dysplasia

    When presented with a patient that may have a skeletal dysplasia, the following must be performed: (a) Clinical evaluation: assessment of disproportionate short stature (prenatal[] Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature.[] DEVELOPMENT AND ENDOCHONDRAL OSSIFICATION CELLULAR PROCESSES THAT CONTRIBUTE TO NORMAL SKELETAL GROWTH AND SKELETAL DYSPLASIA THE SKELETAL DYSPLASIAS THE GENETICS OF SKELETAL[]

  • Familial Short Stature

    short stature.[] Thanatophoric dysplasia It is the most common lethal skeletal dysplasia in the neo‐natal period.[] Clinical abnormalities include severe prenatal and postnatal growth failure and facial dysmorphism.[]

  • Russell-Silver Syndrome

    Systematic testing of cases suspected prenatally or postnatally would be informative regarding the individual contribution of each factor.[] A new skeletal dysplasia syndrome with rhizomelia of the humeri and other malformations. Clin Genet. 1986 Jan; 29 (1):83–87. [ PubMed ] [ Google Scholar ] Adeyokunnu AA.[] This is unlike the pattern in other growth disorders such as Turner syndrome and skeletal dysplasia where parental height has an influence on final height outcome.[]

  • 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[] Post-termination examination revealed no skeletal dysplasia, but some subtle proximal limb shortening in two foetuses, and a spectrum of mildly dysmorphic features.[] , Ivo - Kuklík, Miloslav - Maříková, Alena - Štědrý, Robert bone (skeletal) dysplasia, constitutional disorders of bone, nosology, classification, nomenclature In: Osteologický[]

  • Coxa Valga

    […] and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis.[] The differential diagnosis includes neuromuscular disorders (i.e. cerebral palsy, spinal dysraphism, poliomyelitis), skeletal dysplasias, and juvenile idiopathic arthritis[] dysplasias, and juvenile idiopathic arthritis.[]

  • Spondylometaphyseal Dysplasia

    DIAGNOSIS The diagnosis of a skeletal dysplasia should be considered in any patient who has disproportionately short stature or abnormal development of one or more bones.[] Spondylometaphyseal dysplasia corner fracture type (Sutcliffe) is an uncommon form of skeletal dysplasia which has some unique imaging features.[] We present a previously undescribed skeletal dysplasia characterized by mild platyspondyly, small thorax with cupping of the anterior ends of the ribs, irregular proximal[]

  • Diastrophic Dysplasia

    There may be additional disorders that are characterized by growth delays before and after birth (prenatal and postnatal growth retardation); abnormally short arms and legs[] Patients at risk for skeletal dysplasia could benefit from the enhancements of ultrasound techniques.[] Real-time sonography was performed on 2 second-trimester fetuses with no risk factors for skeletal dysplasia.[]

  • Platyspondyly

    […] and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis.[] TY - JOUR T1 - A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.[] We considered that the patients could be affected by a new distinct autosomal recessive type brachyolmia or a new skeletal dysplasia.[]

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