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Constitutional Short Stature

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181. Osteoporosis in Solid Organ Transplantation (Follow-up)

transplant during these critical years would fail to accrue normal bone mass or delay achievement of peak bone mass. A cross-sectional case control study of 9 patients who were 12-16 years old at the time of cardiac transplantation found that at 8-16 years posttransplant, transplant recipients had shorter stature than calculated midparental height would predict. [ ] Biochemical parameters suggested renal impairment with secondary hyperparathyroidism, without a difference in vitamin D levels between (...) in patients with ESRD due to diabetic nephropathy. While diabetic patients constitute approximately 20% of those receiving renal transplants, virtually all patients receiving both a pancreatic and renal transplant have type 1 diabetes mellitus. Because type 1 diabetes mellitus itself predisposes to cortical osteopenia and low bone turnover, patients with the condition are clearly at greater risk of transplant-associated bone disease and fracture. [ ] The reasons for this are likely multifactorial. Most

2014 eMedicine.com

182. Infertility (Follow-up)

. Hypergonadotropic hypogonadism is often related to gonadal development failure, as in , where the karyotype 45,X indicates an absence of an X chromosome. These patients present with sexual infantilism associated with short stature, webbed neck, and cubitus valgus. Streak gonads replace their ovaries, but they have a small uterus and normal fallopian tubes and vagina. This condition is associated with elevated FSH and LH levels and low estrogen levels. Other chromosomal abnormalities include 46,XX, which (...) indicative of infection or endometriosis; assess for defects (eg, absence of vagina and uterus, vaginal septum) Extremities evaluation: Exclude malformation (eg, shortness of fourth finger, cubitus valgus), which can indicate chromosomal abnormalities and other congenital defects Dermatologic evaluation: Assess for the presence of acne, hypertrichosis, and hirsutism The urologist usually examines the male partner if the patient's history of his semen analysis produces an abnormal finding. Attention

2014 eMedicine.com

183. Dermatologic Manifestations of Cardiac Disease (Follow-up)

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

184. Hypogonadism (Diagnosis)

: 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

185. White Blood Cell Function (Follow-up)

is called the mannan-binding lectin pathway. This last pathway requires the binding of mannan-binding lectin to specific polysaccharides, which subsequently activates proteases and the complement system. Previous Next: Adaptive Immune System Key components and antigen-receptor interaction The adaptive immune system is composed of T and B lymphocytes. Lymphocytes constitute 40% of circulating WBCs. B cells make up 10-20% of lymphocytes, T cells account for 70-75%, and NK cells comprise 10-15 (...) . Recombination events of gene segments and other processes, such as the addition of nucleotides at splicing junctions and somatic hypermutation (in B-cell development), aid in diversification. The receptors created are specific for particular antigens. B cells and their products constitute one arm of the adaptive immune system. B cells arise from hematopoietic stem-cell precursors in the bone marrow and must undergo 2 phases of maturation: an antigen-independent phase and an antigen-dependent phase. A common

2014 eMedicine Pediatrics

186. Skeletal Dysplasia (Overview)

. Previous Next: Prognosis The prognosis in skeletal dysplasias is variable. Some of these disorders are lethal in the neonatal period, while others present later in childhood with short stature. Previous References International Working Group on Constitutional Diseases of Bone. International nomenclature and classification of the osteochondrodysplasias (1997). Am J Med Genet . 1998 Oct 12. 79(5):376-82. . Ikegawa S. Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post (...) ribs, small sacrosciatic notch, extremely short long tubular bones, and markedly short and curved femora (telephone receiver–like appearance). Infant with rhizomelic form of chondrodysplasia punctata (left). Note rhizomelic shortening of limbs, disproportionately short stature, enlarged joints, and contractures. Radiographs depict epiphyseal stipplings on the proximal humerus, both ends of the femora, and lower spine. Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene

2014 eMedicine Pediatrics

187. White Blood Cell Function (Treatment)

is called the mannan-binding lectin pathway. This last pathway requires the binding of mannan-binding lectin to specific polysaccharides, which subsequently activates proteases and the complement system. Previous Next: Adaptive Immune System Key components and antigen-receptor interaction The adaptive immune system is composed of T and B lymphocytes. Lymphocytes constitute 40% of circulating WBCs. B cells make up 10-20% of lymphocytes, T cells account for 70-75%, and NK cells comprise 10-15 (...) . Recombination events of gene segments and other processes, such as the addition of nucleotides at splicing junctions and somatic hypermutation (in B-cell development), aid in diversification. The receptors created are specific for particular antigens. B cells and their products constitute one arm of the adaptive immune system. B cells arise from hematopoietic stem-cell precursors in the bone marrow and must undergo 2 phases of maturation: an antigen-independent phase and an antigen-dependent phase. A common

2014 eMedicine Pediatrics

188. Osteogenesis Imperfecta (Diagnosis)

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

189. 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

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. 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

192. Achondroplasia (Follow-up)

for braces in children older than 5 years. Encourage the family to develop activities in which the affected child can take part; avoid gymnastics, high diving, acrobatics, and collision sports. Discuss how to talk with the child, friends, and family members about short stature. Encourage preschool attendance so that the child can learn to socialize in an age-appropriate way. Discuss with school staff, toileting procedures and special preparations as needed, due to the child's short stature Discourage (...) the child from high jump activity to minimize stress on the joints and spine. Late childhood (5-13 y) Children with achondroplasia usually have normal intelligence and are matriculated in the regular education program. Discuss the need to prepare school personnel and to supply proper furnishings to accommodate for the child's stature. Prepare the child for psychosocial situations, and teach the child how to address these issues. Help children explain their short stature to their peers and encourage them

2014 eMedicine Pediatrics

193. Skeletal Dysplasia (Diagnosis)

. Previous Next: Prognosis The prognosis in skeletal dysplasias is variable. Some of these disorders are lethal in the neonatal period, while others present later in childhood with short stature. Previous References International Working Group on Constitutional Diseases of Bone. International nomenclature and classification of the osteochondrodysplasias (1997). Am J Med Genet . 1998 Oct 12. 79(5):376-82. . Ikegawa S. Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post (...) ribs, small sacrosciatic notch, extremely short long tubular bones, and markedly short and curved femora (telephone receiver–like appearance). Infant with rhizomelic form of chondrodysplasia punctata (left). Note rhizomelic shortening of limbs, disproportionately short stature, enlarged joints, and contractures. Radiographs depict epiphyseal stipplings on the proximal humerus, both ends of the femora, and lower spine. Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene

2014 eMedicine Pediatrics

194. McCune-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 Pediatrics

195. Mitral Valve Prolapse (Diagnosis)

with short stature, characteristic face, and sudden death. Am J Med Genet A . 2003 May 15. 119(1):32-6. . Kaminer SJ, Hixon RL, Strong WB. Evaluation and recommendations for participation in athletics for children with heart disease. Curr Opin Pediatr . 1995 Oct. 7(5):595-600. . Karakurum B, Topcu S, Yildirim T, Karatas M, Turan I, Tan M. Silent cerebral infarct in patients with mitral valve prolapse. Int J Neurosci . 2005 Nov. 115(11):1527-37. . Karavidas AI, Lazaros GA, Zampoulakis JD, et al (...) be an epiphenomenon of the underlying autonomic or neurohumoral illness. The term mitral valve prolapse syndrome is often used to refer to the collection of these manifestations. However, in a significant proportion of patients, the mitral valve prolapse is trivial, and no such associated manifestations are present. In these patients, mitral valve prolapse constitutes an essentially benign condition. Mitral valve prolapse syndrome was recognized as early as 1916, when Sir James MacKenzie described the soldier's

2014 eMedicine Pediatrics

196. 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

197. Skeletal Dysplasia (Treatment)

. Recombinant human growth hormone treatment has been tried in some patients with skeletal dysplasia. Growth hormone is not a logical treatment for the short stature associated with skeletal dysplasia because the defect is caused by abnormal bone growth in response to the stimulus growth hormone secreted at normal levels. Short-term treatment in patients with achondroplasia and hypochondroplasia has demonstrated an increase in growth velocity, which has been sustained for as many as 4-6 years. More trials (...) with a skeletaldysplasia: A review of current knowledge. Disabil Rehab . 2008. 30:1-12. Krakow D, Rimoin DL. The skeletal dysplasias. Genet Med . 2010 Jun. 12 (6):327-41. . Forlino A, Marini JC. Osteogenesis imperfecta. Lancet . 2016 Apr 16. 387 (10028):1657-71. . Media Gallery Infant with rhizomelic form of chondrodysplasia punctata (left). Note rhizomelic shortening of limbs, disproportionately short stature, enlarged joints, and contractures. Radiographs depict epiphyseal stipplings on the proximal humerus, both

2014 eMedicine Pediatrics

198. Chromosomal Breakage Syndromes (Diagnosis)

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

199. Amenorrhea (Overview)

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 Pediatrics

200. 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

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