Approach To A Child With Short Stature (Pediatric Oncall) 4) intrauterine growth retardation (IUGR) 5) Genetic syndromes common examples syndrome6) Inborn error of metabolism 7) Psychosocial dwarfism 8) Idiopathic http://www.pediatriconcall.com/fordoctor/DiseasesandCondition/approach_to_shorts
Extractions: Definition: A child is considered short if :- His height is less than 3 rd percentile or 2 standard deviations below the mean height for that age. Even if the height is within normal percentiles but growth velocity is consistently below 25 th percentile over 6-12 months of observation. If the patient is excessively short for the mid-parental height, though his absolute height may be within the normal percentiles. Useful point to note : 80% of children with height less than 3SD below mean have pathologic Short Stature whereas 80% of children with height less than 2SD usually have normal variant Short Stature.
List Of Rare Diseases Starting With M spastic quadriplegia; Microcephaly, holoprosencephaly, and intrauterine growth retardation; Micromelicdwarfism Fryns type; Micromelic dysplasia dislocation of http://www.sciencedaily.com/encyclopedia/list_of_rare_diseases_starting_with_m
Extractions: Front Page Today's Digest Week in Review Email Updates ... Outdoor Living Main Page See live article This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp A B C ... L M N O P Q ... Z Table of contents showTocToggle("show","hide") 1 Ma-Md 6 Mu-Mz Mac Dermot Patton Williams syndrome Mac Dermot Winter syndrome Macias Flores Garcia Cruz Rivera syndrome Mackay Shek Carr syndrome Macleod Fraser syndrome Macrocephaly cutis marmorata telangiectatica Macrocephaly dominant type Macrocephaly mental retardation facial dysmorphism Macrocephaly mesodermal hamartoma spectrum Macrocephaly mesomelic arms talipes Macrocephaly pigmentation large hands feet Macrocephaly short stature paraplegia Macrodactyly of the foot Macrodactyly of the hand Macroepiphyseal dysplasia Mcalister Coe type Macroglobulinemia Macroglossia dominant Macroglossia exomphalos gigantism Macrogyria pseudobulbar palsy Macrophagic myofasciitis Macrosomia developmental delay dysmorphism
Dwarfism - Short Stature Psychosocial Issues of Growth Delayed Children, Transition to Adult, IntrauterineGrowth Retardation Supports research in causes and treatment of dwarfism. http://www.kumc.edu/gec/support/dwarfism.html
Case Based Pediatrics Chapter . . I. Constitutional Short Stature . . . . II. Primordial dwarfism (intrauterinegrowth retardation) . . . . III. Endocrine Causes . . . . . http://www.hawaii.edu/medicine/pediatrics/pedtext/s20c01.html
Extractions: This is a 15 year old boy who is seen by his primary care physician for short stature and delayed sexual development. His past medical history is unremarkable except for asthma during early childhood, which has been well controlled. He is currently on no medications. He is an average student currently in the 9th grade and is the smallest in his class. He has been harassed by older classmates because of his size. His parents are concerned because Jim is becoming withdrawn and a "loner". PMH: Pregnancy and delivery were uncomplicated. Birth weight and length were 3.86 kg (8.5 pounds) and 51 cm (20"), respectively. His HC was 35 cm. His immunizations are current. Family History: His mother is 48 years old and in good health. Her height is 167 cm (50th %tile). Her menarche began at age 13.0 years. His father is 51 years old, also in good health. His height is 184.0 cm (75th %tile). His father's onset of puberty is not known but he was shaving regularly by age 15. There is one older male sibling age 18 who is in good health. His puberty began at age 11 years. There is no history of smoking, alcoholism, mental illness, drug abuse or learning problems in the family. Exam: VS T 37.1, P 110, R 32, BP 100/60. Ht. 158 cm (3rd %tile), Wt. 42.0 kg. (10th %tile). He is pale and anxious but cooperative. His HEENT exam is normal. His chest is clear. Heart regular, no murmurs. His pulses are symmetrical and equal. There are no masses or areas of tenderness in his abdomen. Genitalia: Normal circumcised phallus, SMR (Tanner) pubic hair stage 1, genital stage 2. His testes are firm, 2.5 cm in length and 4 ml in volume. His scrotum is reddened and stippled. The remainder of his physical exam is unremarkable.
A Splicing Mutation Affecting Expression Of Ataxia[ 150] Seckel syndrome (OMIM 210600) is an autosomal recessive disorder characterized byintrauterine growth retardation, dwarfism, microcephaly and mental retardation http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v33/n4/abs/ng1129.ht
Extractions: This article has been cited by other articles: Laron, Z. (2004). Laron Syndrome (Primary Growth Hormone Resistance or Insensitivity): The Personal Experience 1958-2003. J Clin Endocrinol Metab [Abstract] [Full Text] Besson, A., Salemi, S., Gallati, S., Jenal, A., Horn, R., Mullis, P. S., Mullis, P. E. (2003). Reduced Longevity in Untreated Patients with Isolated Growth Hormone Deficiency. J Clin Endocrinol Metab [Abstract] [Full Text] Pantel, J., Grulich-Henn, J., Bettendorf, M., Strasburger, C. J., Heinrich, U., Amselem, S. (2003). Heterozygous Nonsense Mutation in Exon 3 of the Growth Hormone Receptor (GHR) in Severe GH Insensitivity (Laron Syndrome) and the Issue of the Origin and Function of the GHRd3 Isoform. J Clin Endocrinol Metab [Abstract] [Full Text] Kopchick, J. J., Parkinson, C., Stevens, E. C., Trainer, P. J. (2002). Growth Hormone Receptor Antagonists: Discovery, Development, and Use in Patients with Acromegaly.
Skeletal Reading 2 Most cases of achondroplastic dwarfism are the result of genetic defects that Intrauterinefractures of the extremities usually heal in poor alignment, causing http://www.mhhe.com/biosci/ap/seeleyap/skeletal/reading2.mhtml
Extractions: Bone Disorders Giantism is a condition of abnormally increased height that usually results from excessive cartilage and bone formation at the epiphyseal plates of long bones. The most common type of giantism, pituitary giantism, results from excess secretion of pituitary growth hormone. However, the large stature of some individuals can result from genetic factors rather than from abnormal levels of growth hormone. Acromegaly (ak'ro-meg'al-e) is also caused by excess pituitary growth hormone secretion. However, acromegaly involves growth of connective tissue, including bones, after the epiphyseal plates have ossified. The effect mainly involves increased diameter of all bones and is most strikingly apparent in the face and hands. Many pituitary giants also develop acromegaly later in life. Dwarfism, the condition in which a person is abnormally short, is the opposite of giantism. Pituitary dwarfism results when abnormally low levels of pituitary growth hormone affect the whole body, thus producing a small person who is normally proportioned. Achondroplastic (a-kon'dro-plas'tik) dwarfism, involving a disproportionate shortening of the long bones, is more common than proportionate dwarfing and produces a person with a nearly normal-sized trunk and head but shorter-than-normal limbs. Most cases of achondroplastic dwarfism are the result of genetic defects that cause deficient or improper growth of the cartilage model, especially the epiphyseal plate, and often involve deficient collagen synthesis. Often the cartilage matrix does not have its normal integrity, and the chondrocytes of the epiphysis cannot form their normal columns, even through rates of cell proliferation may be normal.
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