Presentation
Patients with Gitelman syndrome are usually diagnosed by chance or present with muscular weakness, constipation, or tetanies due to hypokalemia and hypomagnesemia. [ncbi.nlm.nih.gov]
Entire Body System
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Dentist
This system helps physicians, medical students, dentists, nurses, pharmacists, and allied health professionals identify education deficits and learn new concepts. [knowledge.statpearls.com]
Teens should also see the dentist each year. Teens need an eye exam every 1 to 2 years. When should you call your doctor? Call your doctor if you have questions or concerns about your teen's physical or emotional health, such as: Delayed growth. [northshore.org]
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Family History of Deafness
There was no family history of deafness or diabetes mellitus although her mother had been investigated extensively for chronic fatigue. [endocrine-abstracts.org]
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Turkish
Roles in Postnatal Growth and Development 2857 Implications for Human Growth 2871 Part XV Assessment of Growth Methods Standards and Comparative Data 2889 India Perspectives 2891 173 The WHO Growth Curves and US Infants 2903 174 Growth Standards for Turkish [books.google.com]
Respiratoric
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Respiratory Abnormalities
Abnormalities Malignancies and Bone Alterations 2047 125 Growth in Hemochromatosis 2067 Part XI Effects of Genetic Conditions on Growth 2090 126 Impairment of Body Growth in Mucopolysaccharidoses 2091 127 Growth in Classical Galactosemia 2119 128 Growth [books.google.com]
Jaw & Teeth
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High Arched Palate
In our sample, the two most frequently observed dysmorphic signs were clinical and/or radiological Madelung deformity (86%) and high arched palate (77%). Half the girls were born small for gestational age. [ncbi.nlm.nih.gov]
arched palate and cleft palate), scoliosis, fifth finger brachydactyly and persistence of finger pads. [intechopen.com]
[…] hypotonia, kyphoscoliosis, cardiac valvular deformities, aortic root dilation Clinical diagnosis using Ghent criteria, testing for FBN1 gene mutation, dilated eye examination Proportionate overgrowth Fragile X syndrome Large, protruding ears; long face; high-arched [aafp.org]
Face, Head & Neck
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Pierre Robin Syndrome
The craniofacial dysmorphic features that are specific for Stickler syndrome type I or II are as follows: mid‐facial hypoplasia, midline clefting and retromicrognatia (Pierre Robin syndrome). [intechopen.com]
Psychiatrical
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Low Self-Esteem
Parental dissatisfaction of their children's stature could lead to children with low self-esteem, dissatisfaction with their own body image and they may perceive themselves as unpopular, while others may view them as emotionally immature [ 7 ]. [omicsonline.org]
Urogenital
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Phenylketonuria
Turner Syndrome 2281 Genetics and Growth Response to Growth Hormone Treatment in Comparison with Turner Syndrome 2299 138 Zinc Transporter Mutations and Human Growth 2319 139 Growth in Common Inherited Disorders 0 Cystic Fibrosis Sickle Cell Disease and Phenylketonuria [books.google.com]
Neurologic
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Cognitive Impairment
Eating difficulties in infancy, fasting hypoglycemia in infancy and childhood, global developmental delay and cognitive impairments (at about 50% of patients) were also observed. [intechopen.com]
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Encephalopathy
MtDNA analysis revealed the A3243G mutation which has been associated with Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS) and Maternally Inherited Deafness and Diabetes (MIDD). [endocrine-abstracts.org]
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Dysesthesia
[…] stenosis ; scoliosis Extremities: bones are short and broad; short fingers Therapy Complications Small foramen magnum : compression of the cervical medulla Spinal canal stenosis and radiculopathy (of the lower back) ; : low back and leg pain, paresthesias, dysesthesia [amboss.com]
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Paresthesia
[…] canal stenosis ; scoliosis Extremities: bones are short and broad; short fingers Therapy Complications Small foramen magnum : compression of the cervical medulla Spinal canal stenosis and radiculopathy (of the lower back) ; : low back and leg pain, paresthesias [amboss.com]
Workup
Workup for GH def• endogenous GH is secreted in a pulsatile fashion. These intermittent peaks are greatest after exercise, meals, and during deep sleep. [slideshare.net]
Although most children with short or tall stature do not have a pathologic condition, extremes of height, especially beyond three standard deviations, require further workup. [aafp.org]
Treatment
Abstract We evaluated the 12 month growth of 18 pubertal children with familial short stature randomly assigned to clinical follow-up (group A), GH treatment alone (group B) and GH LHRH analogue (LHRHa) treatment (group C). [ncbi.nlm.nih.gov]
Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]
Prognosis
Moreover in group B height and height prognosis standard deviation score SDS) also were higher (-2.2 /- 0.2 vs -1.7 /- 0.2 and 1.8 /- 0.3 vs -1 /- 0.2, respectively). [ncbi.nlm.nih.gov]
The purpose of genetic evaluation for short stature is to provide accurate diagnosis for medical management and to provide prognosis and recurrence risk counseling for the patient and family. [nature.com]
It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown" [ 11 ]. [ijpeonline.biomedcentral.com]
Outlook The prognosis for persons with normal variant short stature is excellent. [emedicinehealth.com]
Etiology
Etiological profile of short stature. Indian J Pediatr. 2003;70(7):545-7. . 13. Biswas, K., 2005. Short stature: Etiologically different in the developing country. [asean-endocrinejournal.org]
Laboratory evaluation Choice of tests should be based on the potential etiologies after a careful history and physical examination. [online.epocrates.com]
References: [9] Treatment Management depends on the underlying cause : References: [9] Skeletal dysplasias Achondroplasia Etiology Epidemiology Most common type of skeletal dysplasia and disproportionate short stature ( 1:40,000 children worldwide affected [amboss.com]
Clinical Pearls • What diagnoses should be considered in a child with short stature and what is the most common etiology? Clinicians who evaluate children with short stature must consider many potential causes. [blogs.nejm.org]
The most useful information in the evaluation of a child with short stature is the child's growth pattern Medical care depends on the etiology of the short stature. [emedicine.medscape.com]
Epidemiology
Organic Pollutants and Fetal Growth 2559 153 n3 Polyunsaturated Fatty Acids and Foetal Growth 2579 154 Polyunsaturated Fatty Acids and Growth in Healthy Children and Some Rare Diseases 2597 155 Folate and Fetal Growth 2619 Growth Exercise and Nutrition Epidemiological [books.google.com]
Frequency [ edit ] Although the epidemiologic data indicate that all variants of normal growth are twice as common in boys as in girls, referrals for short stature reflect an even more divergent sex ratio. [en.wikipedia.org]
References: [9] Treatment Management depends on the underlying cause : References: [9] Skeletal dysplasias Achondroplasia Etiology Epidemiology Most common type of skeletal dysplasia and disproportionate short stature ( 1:40,000 children worldwide affected [amboss.com]
Paediatric Cushing's syndrome: epidemiology, investigation and therapeutic advances. Trends Endocrinol Metab. 2007;18(4):167–174. 22. Rogol AD, Hayden GF. [aafp.org]
Pathophysiology
Pathophysiology [ edit ] CDGP is a global delay in development that affects every organ system. [en.wikipedia.org]
Clinical review 14: Pathophysiology and treatment of sexual precocity. JClin Endocrinol Metab 1990; 71:785. 10. Clinical pediatric endocrinology by Charles Groves Darville Brook, Peter E. Clayton, Rosalind S. Brown. 11. Stedman's Medical Dictionary. [wikidoc.org]
References: [1] [2] Causes of short stature Causes of short stature Pathophysiology Specific features Nonpathological Familial short stature Inheritance of parental short stature Normal development; skeletal age consistent with chronological age Constitutional [amboss.com]
Prevention
Prevention Short stature can’t be prevented in children who have a familial short stature or short stature from genetic problems. Short stature from health problems can be prevented by treating the problem causing it. [cancercarewny.com]
Growth disorders are problems that prevent children from developing normal height, weight, sexual maturity or other features. Very slow or very fast growth can sometimes signal a gland problem or disease. [icdlist.com]
A well balanced diet will help prevent or overcome this disorder. Intrauterine Growth Retardation (“IUGR”) ( top ) A disorder which occurs while the baby is still in the mother’s womb. [hgfound.org]
In this study, age percentiles were determined for each subject according to the Centres for Disease Control and Prevention (CDC) growth charts. Normal height is between 5 th - 95 th percentiles. Short stature is height below 5 th percentile. [omicsonline.org]
Illnesses that affect the whole body (also called systemic diseases) Malnutrition--constant malnutrition prevents children from attaining their full growth potential; a well-balanced diet generally prevents or corrects this disorder. [childrensnational.org]