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50 Possible Causes for Dysmorphic Face, Prenatal and Postnatal Short Stature

  • 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[analesdepediatria.org] Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”?.[nature.com] , neonatal or postnatal), family history (mean parental height and other possible cases of stature), family tree (comprising at least three generations), weight, length and[analesdepediatria.org]

  • 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[mayomedicallaboratories.com] , and "typical" erythematous sun-sensitive skin lesions of the face.[ncbi.nlm.nih.gov] Characteristic findings on physical examination The hallmark physical features are proportionate dwarfism, facial dysmorphisms including narrow face, small mandible, prominent[dermatologyadvisor.com]

  • Russell-Silver Syndrome

    Systematic testing of cases suspected prenatally or postnatally would be informative regarding the individual contribution of each factor.[ncbi.nlm.nih.gov] […] and further dysmorphisms.[ncbi.nlm.nih.gov] […] forehead [ more ] 0011220 Relative macrocephaly Relatively large head 0004482 Short stature Decreased body height Small stature [ more ] 0004322 Triangular face Face with[rarediseases.info.nih.gov]

  • Turner Syndrome

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

  • 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] The significant features of this syndrome include facial dysmorphism with gloomy face and very short stature, but no radiological abnormality or hormone deficiency.[ncbi.nlm.nih.gov] Additionally, this syndrome is characterized by dysmorphic facial features (large head, dolichocephaly, frontal bossing, a triangular face, long philtrum and hypoplastic midface[cags.org.ae]

  • 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.[musculoskeletalkey.com] face pelvic scapula dysplasia Short stature heart defect craniofacial anomalies Short stature hyperkaliemia acidosis Short stature locking fingers Short stature mental retardation[wikidoc.org] face pelvic scapula dysplasia Short stature hyperkaliemia acidosis Short stature mental retardation eye anomalies Short stature microcephaly seizures deafness Short stature[personalizedcause.com]

  • 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[peachynay.tripod.com] […] and short stature (short-limbed dwarfism); distinctive malformations of bones of the fingers and hands; clubfeet; partial (subluxation) or complete dislocation and/or permanent[peachynay.tripod.com]

  • 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] The association of severe short stature, dysmorphic face, teeth abnormalities and bone dysplasia must guide us to suggest the diagnosis especially in the Middle Eastern and[abstracts.eurospe.org] , preominent forehead, triangular face with deep-set eyes, abnormalexternal ear, wide depressed nasal bridge, bulbous nasal tip,antevertednares, long philtrum, thin lips and[alliedacademies.org]

  • Familial Short Stature

    short stature.[ncbi.nlm.nih.gov] Dysmorphic features: Trisomy 21: hypotonia, upward slanting of palpebral fissures, round face, micrognathia, single palmar crease, brachycephaly Turner syndrome: webbed neck[online.epocrates.com] Dysmorphic features present with disproportionate between low segment and high segment of the body.[drhc.ae]

  • Cutis Laxa

    Severe short stature, mental retardation and hypertrophic cardiomyopathy are other associated manifestations (16).[caribbean.scielo.org] Cutis laxa with face dysmorphism,cleft palate & MR: folds ] 20. Cutis laxa with face dysmorphism,cleft palate & MR: folds ] 21.[slideshare.net] , generally sparing the face), and developmental delay.[medical-case-reports.imedpub.com]

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