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Constitutional Short Stature

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181. Somatosensory Evoked Potentials: General Principles (Follow-up)

nerve at the ankle. SEPs can also be recorded following stimulation of branches of the trigeminal nerve, but this is technically challenging because of the proximity of the stimulating and recording electrodes and the short latencies of the responses; the electrical stimulus artifact often overlaps with, and obscures, the trigeminal nerve SEPs. Recordings of SEPs to stimulation of the ulnar nerves at the wrists are useful for intraoperative monitoring when the mid-cervical spinal cord or parts (...) is anesthetized during intraoperative SEP monitoring, higher stimulus intensities can be used and are advisable to provide a safety margin in case the efficacy of nerve stimulation decreases during surgery. Factors that can decrease the efficacy of nerve stimulation include edema of the limb, partial short-circuiting of the stimulating current by fluids, and ischemia of the peripheral nerve. [ ] Stimulus rate Rapid stimulus delivery rates should be avoided, as they degrade the SEP waveforms. In clinical

2014 eMedicine.com

182. Ataxia with Identified Genetic and Biochemical Defects (Follow-up)

of such defects are as follows: [ ] Carnitine palmitoyltransferase-1 deficiency Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) Multiple-acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) Primary systemic carnitine deficiency Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Short-chain acyl-CoA dehydrogenase deficiency Trifunctional enzyme deficiency Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) Clinical features Episodic vomiting Intermittent bouts of weakness, lethargy

2014 eMedicine.com

183. Somatosensory Evoked Potentials: General Principles (Diagnosis)

nerve at the ankle. SEPs can also be recorded following stimulation of branches of the trigeminal nerve, but this is technically challenging because of the proximity of the stimulating and recording electrodes and the short latencies of the responses; the electrical stimulus artifact often overlaps with, and obscures, the trigeminal nerve SEPs. Recordings of SEPs to stimulation of the ulnar nerves at the wrists are useful for intraoperative monitoring when the mid-cervical spinal cord or parts (...) is anesthetized during intraoperative SEP monitoring, higher stimulus intensities can be used and are advisable to provide a safety margin in case the efficacy of nerve stimulation decreases during surgery. Factors that can decrease the efficacy of nerve stimulation include edema of the limb, partial short-circuiting of the stimulating current by fluids, and ischemia of the peripheral nerve. [ ] Stimulus rate Rapid stimulus delivery rates should be avoided, as they degrade the SEP waveforms. In clinical

2014 eMedicine.com

184. Amenorrhea, Primary (Diagnosis)

the gonad during organogenesis. The gonads usually contain only fibrous tissue and are called streak gonads. In females, the most common form of gonadal dysgenesis is Turner syndrome (45,X), in which gonadotropin levels, especially the FSH levels, are high during early childhood and after age 9-10 years. Additional anomalies associated with Turner syndrome include short stature, webbed neck, coarctation of the aorta (10%), renal abnormalities (50%), hypertension, pigmented nevi, short forth metacarpal (...) the point at which oligomenorrhea becomes amenorrhea. Some authors suggest the absence of menses for 6 months constitutes amenorrhea, but the basis for this recommendation is unclear. For a post-menarchal girl or a reproductive-aged woman to experience a menstrual cycle interval of more than 90 days is statistically unusual. Practically speaking, this should be an indication for an evaluation to seek the cause. Next: Pathophysiology The menstrual cycle is an orderly progression of coordinated hormonal

2014 eMedicine.com

185. Albright Syndrome (Diagnosis)

-term prognosis for infantile Cushing syndrome depends on adequate replacement of both mineralocorticoids and glucocorticoids. Individuals remain at risk for significant morbidity or mortality due to adrenal insufficiency during times of severe stress and should receive stress doses of hydrocortisone on an emergency basis. Hypophosphatemia causes rickets and short stature; the pathophysiology of hypophosphatemic rickets, as well as the need for long-term therapy with calcitriol and phosphorus (...) subunit remains activated for a prolonged period despite the absence of hormone (GPCR ligand) stimulation. This results in constitutive activation of Gs alpha, constant stimulation of adenylyl cyclase, and persistently high levels of intracellular cAMP. Increased cAMP levels can mediate mitogenesis and increased cell function. The specific phenotype depends on the cell type containing the mutation. Mutations in McCune-Albright syndrome inactivate intrinsic guanosine triphosphatase (GTPase) activity

2014 eMedicine.com

186. Dermatologic Manifestations of Cardiac Disease (Diagnosis)

cause. Often, more than one etiologic component must be addressed in management. Baldness, Thoracic Hairiness, and Earlobe Crease Baldness, short stature, thoracic hairiness, and diagonal earlobe crease are found in some patients with atherosclerosis. They have been associated with an increased incidence of coronary heart disease. The mechanism is unclear. Genetic abnormalities may be responsible. [ ] Diagonal earlobe crease Reports based on coronary angiographic studies and postmortem examinations (...) with cyanotic congenital heart diseases (eg, tetralogy of Fallot, Eisenmenger syndrome). It is also seen in persons with infective endocarditis. The differential diagnosis may include hereditary, idiopathic, constitutional, or acquired conditions. The acquired causes include pulmonary conditions (ie, primary and metastatic lung cancer, bronchiectasis, lung abscess, cystic fibrosis, mesothelioma) or gastrointestinal diseases (ie, regional enteritis, ulcerative colitis, cirrhosis). Schematic representation

2014 eMedicine.com

187. Bone Marrow Failure (Diagnosis)

with this disease develop aplastic anemia in their second decade of life Shwachman-Diamond syndrome - This disorder consists of exocrine pancreatic insufficiency and bone marrow failure; occasionally, cartilage and hair hypoplasia occur, resulting in short stature and dysostosis Single cytopenias Pure red cell aplasia may be a secondary disorder caused by a thymoma. It may also occur transiently, resulting from a viral infection, as with parvovirus B19. Pure red cell aplasia also may be permanent, as a result (...) in the gene for small ribosomal protein ( RPS19 ), located at band 19q13.2. In half of the patients, severe congenital neutropenia is associated with dominant mutations in neutrophil elastase ( ELA2, located at band 19p13.3), while a few patients have mutations in GFI-1. Thrombocytopenia absent radii syndrome is associated with bone marrow failure, but no genetic defect for bone marrow failure has been identified in this autosomal recessive disorder. Constitutional causes Constitutional aplastic anemia

2014 eMedicine.com

188. Aplastic Anemia (Diagnosis)

that are associated not only with increased susceptibility to aplastic anemia but also with other physical findings. Fanconi anemia is characterized by the following: Multiple congenital anomalies (60-75%): Short stature, abnormal skin pigmentation, malformations of the thumbs with or without dysplastic or absent radii, as well as microphthalmos and malformations of the heart, kidneys, intestines, and ears Bone marrow failure: Thrombocytopenia, leukopenia, or aplastic anemia; most patients with Fanconi anemia (...) . These genes encode proteins that are part of the telomerase apparatus that restores repeated regions in the telomere. [ ] Cartilage-hair hypoplasia Cartilage-hair hypoplasia, which is caused by mutations in the RMRP gene, is inherited in an autosomal recessive manner. This condition is characterized by the following: Short stature with short and bowed limbs Sparse, lightly pigmented hair Variably severe immune deficiency Anemia during childhood Hematopoietic malignancies, as well as malignancies

2014 eMedicine.com

189. Ataxia with Identified Genetic and Biochemical Defects (Diagnosis)

of such defects are as follows: [ ] Carnitine palmitoyltransferase-1 deficiency Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) Multiple-acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) Primary systemic carnitine deficiency Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Short-chain acyl-CoA dehydrogenase deficiency Trifunctional enzyme deficiency Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) Clinical features Episodic vomiting Intermittent bouts of weakness, lethargy

2014 eMedicine.com

190. Chromosomal Breakage Syndromes (Overview)

is unknown. Age Shortness of stature is evident at birth, but the syndrome's typical facial erythema usually does not appear until several months after birth. [ ] German reported first diagnoses of cancers in patients whose ages ranged from 4-46 years. Causes Frequency of sister chromatid exchanges (SCE) in homozygotes is high (ie, 12-15 times higher rate than reference range); the SCE rate in heterozygotes is normal. Chromosome interchanges between homologous chromosomes, gaps, and breaks occur. DNA (...) diagnosis and genetic counseling Dermatologist for telangiectasias Pediatric infectious disease specialist for antibiotics Hematologist-oncologist to monitor and treat malignancies Endocrinologist for short stature and management of diabetes mellitus Ophthalmologist for retinal abnormalities Pediatric gastroenterologist for feeding problems, decreased interest in feeding, and episodes of regurgitation and vomiting Psychosocial specialist to provide support for social interactions at home and school

2014 eMedicine Pediatrics

191. Achondroplasia (Overview)

at birth. A short review on the state of the art in radiodiagnosis in the late 20th century. Radiol Med (Torino) . 1999 Mar. 97(3):116-20. . Keiper GL Jr, Koch B, Crone KR. Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. Pediatr Neurosurg . 1999 Aug. 31(2):78-83. . Mehta A, Hindmarsh PC. The use of somatropin (recombinant growth hormone) in children of short stature. Paediatr Drugs . 2002. 4(1):37-47. . Hoover-Fong JE, Schulze KJ, McGready J, Barnes H (...) : Sep 17, 2018 Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD Share Email Print Feedback Close Sections Sections Genetics of Achondroplasia Overview Background Achondroplasia, a nonlethal form of chondrodysplasia, is the most common type of short-limb dwarfism. This skeletal dysplasia is inherited as a Mendelian autosomal dominant trait with complete penetrance. Approximately 80% of cases are due to a new ( de novo ) dominant mutation, with the mutation rate estimated

2014 eMedicine Pediatrics

192. Achondrogenesis (Overview)

, ossification only in anterior parts of the vertebral bodies, and short and curved femora. In the late 1980s, structural mutations in collagen II were shown to cause achondrogenesis type II, which thus constitutes the severe end of the spectrum of collagen II chondrodysplasias. Achondrogenesis type I was subdivided further in 1988 on the basis of convincing histologic criteria. It was subdivided into type IA, which has apparently normal cartilage matrix but inclusions in chondrocytes, and type IB, which has (...) collagen disorders, all of which result from dominant mutations in the COL2A1 gene. [ , , ] Phenotypes within this group range from severe lethal dwarfism at birth to relatively mild conditions with precocious osteoarthrosis and little or no skeletal growth abnormality. Achondrogenesis II-hypochondrogenesis and lethal spondyloepiphyseal dysplasia congenita (SEDC) represent the more severe end of the spectrum. [ ] These entities are characterized by severe disproportionate short stature of prenatal

2014 eMedicine Pediatrics

193. Atrioventricular Block, Third Degree, Acquired (Overview)

, and progressive cardiac conduction defects, including complete heart block. Other features may include ataxia, hearing loss, dementia, short stature, delayed secondary sexual characteristics, hypoparathyroidism, hypothyroidism, and peripheral neuropathy. The diagnosis is usually made clinically and by demonstration of ragged red fibers on skeletal muscle biopsy. Any progression in conduction abnormalities (such as from first- to second- degree AV block) is a clear indication for permanent pacemaker (...) involve the mitral and aortic valves, the central fibrous body, and the summit of the ventricular septum. Lenègre disease is thought to represent a primary sclerodegenerative disease of the conducting system with no involvement of the myocardium or fibrous skeleton of the heart. Intracardiac tumor Intracardiac tumors constitute a very rare cause of acquired complete AV block that occurs through invasion of the conduction system. [ ] The term cardiac mesothelioma refers to heterotopic epithelial

2014 eMedicine Pediatrics

194. Growth Failure (Overview)

and weight with a normal head circumference in an infant with growth hormone deficiency. A child is considered short if he or she has a height that is below the fifth percentile; alternatively, some define short stature as height less than 2 standard deviations below the mean, which is near the third percentile. Thus, 3-5% of all children are considered short. Many of these children actually have normal growth velocity. These short children include those with familial short stature or constitutional (...) familial short stature (37%), constitutional delay (27%), a combination of familial short stature and constitutional delay (17%), other medical causes (10%), idiopathic short stature (5%), growth hormone deficiency (3%), (3% of girls), and (0.5%). International Several studies have been conducted to determine the frequency of various causes of short stature. In 1974, Lacey and Parkin evaluated children in Newcastle upon Tyne in England. [ ] They studied 2256 children, 111 of whom were below the third

2014 eMedicine Pediatrics

195. Growth Failure (Follow-up)

Medicine . 13th ed. New York, NY: McGraw-Hill Medical Publishing Division; 1994. Horner JM, Thorsson AV, Hintz RL. Growth deceleration patterns in children with constitutional short stature: an aid to diagnosis. Pediatrics . 1978 Oct. 62(4):529-34. . Kojima M, Hosoda H, Date Y. Ghrelin is a growth-hormone-releasing acylated peptide from stomach. Nature . 1999 Dec 9. 402(6762):656-60. . Kojima M, Hosoda H, Matsuo H. Ghrelin: discovery of the natural endogenous ligand for the growth hormone secretagogue (...) patient education resources, visit eMedicineHealth's . Also, see eMedicineHealth's patient education articles , , , and . Previous References [Guideline] New York State Department of Health. Growth, body composition, and metabolism. New York (NY): New York State Department of Health; 2007 Nov. . Lindsay R, Feldkamp M, Harris D. Utah Growth Study: growth standards and the prevalence of growth hormone deficiency. J Pediatr . 1994 Jul. 125(1):29-35. . Lacey KA, Parkin JM. Causes of short stature

2014 eMedicine Pediatrics

196. Chromosomal Breakage Syndromes (Treatment)

is unknown. Age Shortness of stature is evident at birth, but the syndrome's typical facial erythema usually does not appear until several months after birth. [ ] German reported first diagnoses of cancers in patients whose ages ranged from 4-46 years. Causes Frequency of sister chromatid exchanges (SCE) in homozygotes is high (ie, 12-15 times higher rate than reference range); the SCE rate in heterozygotes is normal. Chromosome interchanges between homologous chromosomes, gaps, and breaks occur. DNA (...) diagnosis and genetic counseling Dermatologist for telangiectasias Pediatric infectious disease specialist for antibiotics Hematologist-oncologist to monitor and treat malignancies Endocrinologist for short stature and management of diabetes mellitus Ophthalmologist for retinal abnormalities Pediatric gastroenterologist for feeding problems, decreased interest in feeding, and episodes of regurgitation and vomiting Psychosocial specialist to provide support for social interactions at home and school

2014 eMedicine Pediatrics

197. Hypogonadism (Overview)

: As evidenced by breast development and maturation of the vaginal mucosa Examination for signs of Turner syndrome (eg, short stature, webbing of the neck [such as pterygium colli], a highly arched palate, short fourth metacarpals, widely spaced nipples, or multiple pigmented nevi) See for more detail. Diagnosis The following studies may be indicated in males with hypogonadism: Follicle-stimulating hormone (FSH) levels Luteinizing hormone (LH) levels Prolactin levels Testosterone levels Thyroid function (...) , such as spironolactone and cyproterone. Agents such as cortisol, marijuana, heroin, and methadone may interfere with gonadotropin secretion. Considerations in the evaluation of females with hypogonadism include the following: Signs associated with Turner syndrome (eg, lymphedema, cardiac or renal congenital anomalies, and short growth pattern) Age of menarche Physical examination Considerations in the physical examination of males with hypogonadism include the following: Evaluation of the testes: This is the most

2014 eMedicine Pediatrics

198. Osteogenesis Imperfecta (Overview)

loss. [ ] This form of OI is caused by homozygous mutation in the TMEM38B gene and is inherited in an autosomal recessive manner. [ ] WNT1 (Type XV) This recently discovered form of osteogenesis imperfecta has now been described in a number of families and causes moderate to severe disease. Patients with this condition have had short stature, blue or white sclerae, and normal hearing. A subset of patients have been seen with brain malformations and developmental delay. This form of OI is caused (...) (Bruck syndrome) Patients with Bruck syndrome have congenital brittle bones prone to fracture, as well as congenital joint contractures and pterygia. They also have short stature, severe limb deformity, wormian bones, and progressive scoliosis which can be severe. Patients have generally been described with normal hearing, no dentinogenesis imperfecta, and white sclerae. Two forms of Bruck syndrome have been delinated with molecular testing, but appear to be clinically indistinguishable. Bruck

2014 eMedicine Pediatrics

199. McCune-Albright Syndrome (Overview)

-term prognosis for infantile Cushing syndrome depends on adequate replacement of both mineralocorticoids and glucocorticoids. Individuals remain at risk for significant morbidity or mortality due to adrenal insufficiency during times of severe stress and should receive stress doses of hydrocortisone on an emergency basis. Hypophosphatemia causes rickets and short stature; the pathophysiology of hypophosphatemic rickets, as well as the need for long-term therapy with calcitriol and phosphorus (...) subunit remains activated for a prolonged period despite the absence of hormone (GPCR ligand) stimulation. This results in constitutive activation of Gs alpha, constant stimulation of adenylyl cyclase, and persistently high levels of intracellular cAMP. Increased cAMP levels can mediate mitogenesis and increased cell function. The specific phenotype depends on the cell type containing the mutation. Mutations in McCune-Albright syndrome inactivate intrinsic guanosine triphosphatase (GTPase) activity

2014 eMedicine Pediatrics

200. Chromosomal Breakage Syndromes (Follow-up)

is unknown. Age Shortness of stature is evident at birth, but the syndrome's typical facial erythema usually does not appear until several months after birth. [ ] German reported first diagnoses of cancers in patients whose ages ranged from 4-46 years. Causes Frequency of sister chromatid exchanges (SCE) in homozygotes is high (ie, 12-15 times higher rate than reference range); the SCE rate in heterozygotes is normal. Chromosome interchanges between homologous chromosomes, gaps, and breaks occur. DNA (...) diagnosis and genetic counseling Dermatologist for telangiectasias Pediatric infectious disease specialist for antibiotics Hematologist-oncologist to monitor and treat malignancies Endocrinologist for short stature and management of diabetes mellitus Ophthalmologist for retinal abnormalities Pediatric gastroenterologist for feeding problems, decreased interest in feeding, and episodes of regurgitation and vomiting Psychosocial specialist to provide support for social interactions at home and school

2014 eMedicine Pediatrics

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