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48 Possible Causes for Proportionate Short Stature at Birth

  • Seckel Syndrome

    Following birth, the child will experience slow growth and bone maturation resulting in short yet proportional stature (as opposed to short-limbed dwarfism, or achondroplasia[rarediseases.about.com] short stature 0003508 Seizures Seizure 0001250 Selective tooth agenesis 0001592 Single transverse palmar crease 0000954 Sloping forehead Inclined forehead Receding forehead[rarediseases.info.nih.gov] proportionate stature Abnormally small head size (microcephaly) A beak-like protrusion of the nose Narrow face Malformed ears Unusually small jaw (micrognathia) Mental retardation[rarediseases.about.com]

  • Laron Syndrome with Immunodeficiency

    Table 2 IGF-I generation test Fig. 4 Flow chart for the analysis of a child with proportionate short stature, normal birth weight and length, low IGF-I levels ( 60 mU/l.[karger.com] GHI is characterized by severe but proportionate short stature as a result of growth failure that begins at birth.[rarediseases.org] Fig. 3 Flow chart for the evaluation of a child with proportionate short stature, normal birth weight and length, low IGF-I levels ( GH deficiency is usually diagnosed if[karger.com]

  • Early Infantile Epileptic Encephalopathy Type 2

    short stature Severe postnatal growth retardation Decreased skull ossification Hypomagnesemia Delayed closure of the anterior fontanelle Tetany Generalized tonic seizures[mendelian.co] Hypocalcemic seizures Oxycephaly Birth length less than 3rd percentile Hypocalcemic tetany Thin clavicles Congenital hypoparathyroidism Cortical thickening of long bone diaphyses[mendelian.co] […] ischemic attack Hyperventilation Broad jaw Loss of consciousness Long clavicles Hypocalcemia Delayed cranial suture closure Hypoparathyroidism Slender long bone Thin ribs Proportionate[mendelian.co]

  • Laron Syndrome

    Table 2 IGF-I generation test Fig. 4 Flow chart for the analysis of a child with proportionate short stature, normal birth weight and length, low IGF-I levels ( 60 mU/l.[doi.org] Symptoms : severe but proportionate short stature (evident at birth or soon after), growth retardation, delays in tooth eruption, disproportion between the growth of the head[prep4usmle.com] GHI is characterized by severe but proportionate short stature as a result of growth failure that begins at birth.[rarediseases.org]

  • Congenital Tracheomalacia

    About two thirds of affected individuals have growth deficiency after birth and associated proportionate short stature.[rarediseases.org] In approximately one third of reported cases, infants with HSS are born prematurely and/or have a low birth weight.[rarediseases.org]

  • Familial Short Stature

    IUGR produces full-term babies unusually small in weight and/or length at birth. They are proportionately short statured.[hgfound.org] Causes Of Short Stature:A) Proportionate Short Stature 1) Normal Variants: i) Familial ii) Constitutional Growth Delay 2) Prenatal Causes: i) Intra-uterine Growth Restriction[slideshare.net] Short Child That Looks Normal Calculate TH Not Within Target Range Within Target Range Watch GV Observe – GV NormalNormal growth velocity Low growth velocity Low birth weight[slideshare.net]

  • Congenital Isolated ACTH Deficiency

    In infancy, he was of proportionate short stature with certain phenotypic features such as puppet-face appearance.[edmcasereports.com] He was born from nonconsanguineous progenitors and any other family member was not of short stature.[edmcasereports.com] Birth length at 42 weeks of gestation was already poor (48 cm) and weight was 4080 g.[edmcasereports.com]

  • Ochoa Syndrome

    About two thirds of affected individuals have growth deficiency after birth and associated proportionate short stature.[rarediseases.org] In approximately one third of reported cases, infants with HSS are born prematurely and/or have a low birth weight.[rarediseases.org]

  • Lytic Bone Lesion

    short stature.[jocr.co.in] While dysmorphic features at birth and presence of acroosteolysis allow diagnosis early in life, the full phenotype is rarely present in childhood.[jocr.co.in] […] by acroosteolysis (dissolution) of the distal phalanges with possible associated digit abnormalities, distinctive craniofacial and skull features, dental anomalies, and proportionate[jocr.co.in]

  • Bangstad Syndrome

    stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Small for gestational age Birth weight less than 10th percentile Low birth weight [ more ][rarediseases.info.nih.gov] Pancytopenia Low blood cell count 0001876 Progressive cerebellar ataxia 0002073 Retrognathia Receding chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Severe short[rarediseases.info.nih.gov]

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