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Constitutional Short Stature

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161. Dermatologic Manifestations of Cardiac Disease (Treatment)

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

162. Ataxia with Identified Genetic and Biochemical Defects (Treatment)

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

163. Osteoporosis in Solid Organ Transplantation (Treatment)

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

164. Infertility (Treatment)

. 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

165. Somatosensory Evoked Potentials: General Principles (Treatment)

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

166. Retinitis Pigmentosa (Overview)

Kearns-Sayre syndrome: External ophthalmoplegia, lid ptosis, heart block, and pigmentary retinopathy Abetalipoproteinemia: Fat malabsorption, fat-soluble vitamin deficiencies, spinocerebellar degeneration, and pigmentary retinal degeneration Mucopolysaccharidoses (eg, Hurler syndrome, Scheie syndrome, Sanfilippo syndrome): Can be affected with pigmentary retinopathy Bardet-Biedl syndrome: Polydactyly, truncal obesity, kidney dysfunction, short stature, and pigmentary retinopathy Neuronal ceroid (...) of inherited disorders characterized by progressive peripheral vision loss and night vision difficulties (nyctalopia) that can lead to central vision loss. Gross pathology of an eye in a man with retinitis pigmentosa. With advances in molecular research, it is now known that RP constitutes many retinal dystrophies and retinal pigment epithelium (RPE) dystrophies caused by molecular defects in more than 40 different genes for isolated RP and more than 50 different genes for syndromic RP. Not only

2014 eMedicine.com

167. Osteoporosis in Solid Organ Transplantation (Overview)

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

168. Dermatologic Manifestations of Cardiac Disease (Overview)

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

169. Aplastic Anemia (Overview)

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

170. Ataxia with Identified Genetic and Biochemical Defects (Overview)

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

171. 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

172. Amenorrhea, Primary (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.com

173. 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.com

174. 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

175. Enchondroma and Enchondromatosis

signs occur before puberty. Osteochondromas most commonly occur in the hands and feet, and enchondromas typically involve the iliac crests and metaphyses of long bones. Spondyloenchondrodysplasia (SPENCD) is a rare autosomal recessive skeletal dysplasia caused by recessive mutations in the ACP5 gene. It is characterized by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD has a heterogeneous clinical spectrum, including (...) and Enchondromatosis Imaging Updated: Jan 24, 2018 Author: Felix S Chew, MD, MBA, MEd; Chief Editor: Felix S Chew, MD, MBA, MEd Share Email Print Feedback Close Sections Sections Enchondroma and Enchondromatosis Imaging Overview Overview Enchondromas are benign cartilaginous neoplasms that are usually solitary lesions in intramedullary bone occurring most commonly in small bones of the hands and feet. The distal femur and proximal humerus are other, less common locations. Enchondromas constitute 3-10% of all bone

2014 eMedicine Radiology

176. Diastrophic Dysplasia (Diagnosis)

: Apr 30, 2018 Author: Shital Parikh, MD; Chief Editor: Harris Gellman, MD Share Email Print Feedback Close Sections Sections Diastrophic Dysplasia Overview Background Skeletal dysplasias are a heterogeneous group of dysplasias that include more than 200 recognized conditions. They are disorders of growth and remodeling of bone and cartilage. Most disorders result in short stature, which is defined as height more than two standard deviations below the mean for the population at a given age. (When (...) one discusses height in patients with short stature, one may say "smaller than average" rather than "dwarf.") Lamy and Maroteaux first delineated this syndrome in 1960 and coined the term diastrophic dwarfism. [ ] The term diastrophic is derived from the Greek word diastrophe ("distortion, twisting"); it is a geologic term used to describe the bending and twisting of the earth's crust during geomorphogenesis. This name seems appropriate for this disorder, in which the skeleton appears twisted

2014 eMedicine Surgery

177. Diastrophic Dysplasia (Overview)

30, 2018 Author: Shital Parikh, MD; Chief Editor: Harris Gellman, MD Share Email Print Feedback Close Sections Sections Diastrophic Dysplasia Overview Background Skeletal dysplasias are a heterogeneous group of dysplasias that include more than 200 recognized conditions. They are disorders of growth and remodeling of bone and cartilage. Most disorders result in short stature, which is defined as height more than two standard deviations below the mean for the population at a given age. (When one (...) discusses height in patients with short stature, one may say "smaller than average" rather than "dwarf.") Lamy and Maroteaux first delineated this syndrome in 1960 and coined the term diastrophic dwarfism. [ ] The term diastrophic is derived from the Greek word diastrophe ("distortion, twisting"); it is a geologic term used to describe the bending and twisting of the earth's crust during geomorphogenesis. This name seems appropriate for this disorder, in which the skeleton appears twisted. In 1977

2014 eMedicine Surgery

178. Rhinoplasty, Nasal Tip Projection

overdevelopment Nasal spine overdevelopment Caudal septal overdevelopment Dorsal septal overdevelopment Elongated columella and medial crura Combined overdevelopment abnormalities Iatrogenic overprojecting tip Etiologies of the underprojecting tip include the following (see Pathophysiology, Underprojection): Small or hypoplastic alar cartilages Short columella Small nostrils Illusion of underprojection secondary to high radix (reduces nasofacial angle) Maxillary retrusion Previous Next: Pathophysiology (...) are also reduced in an incremental fashion in order to achieve the desired result. Underprojection Lack of nasal tip projection has certain common characteristics. The columella may be short, but frequently other deficiencies are present in the nasal tip. Short medial crura may curve into small lateral crura without a significant segment of intermediate crura to provide caudal angulation and projection for the tip. This abnormality typically results in an acute nasolabial angle. The illusion of lack

2014 eMedicine Surgery

179. Achondroplasia (Diagnosis)

: Shital Parikh, MD; Chief Editor: Jeffrey D Thomson, MD Share Email Print Feedback Close Sections Sections Achondroplasia Overview Background The are a heterogeneous group of disorders characterized by intrinsic abnormalities in the growth or remodeling of cartilage and bone. They affect the skull, spine, and extremities in varying degrees. [ ] Skeletal dysplasias frequently cause a disproportionately short stature (dwarfism); the standing height falls below the third percentile for age (...) . Achondroplasia is the most common type of short-limb disproportionate dwarfism. [ ] The term achondroplasia, implying absent cartilage formation, was first used by Parrot in 1878. [ ] Although this term is inaccurate from a histopathologic perspective, its use is universal and is accepted by the International Working Group on Constitutional Diseases of the Bone. [ , , ] Next: Anatomy The bony skeleton is divided into two parts: the axial skeleton and the appendicular skeleton. The axial skeleton

2014 eMedicine Surgery

180. 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

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