Here, we present a young girl with developmental delay, short stature despite a markedly advanced bone age, hypertrichosis without elbow hair, renal anomalies, and dysmorphic facial features, found to have a heterozygous, de novo, intragenic deletion [ncbi.nlm.nih.gov]

Acronym SSOAOD Synonyms Osteochondritis dissecans, short stature, and early-onset osteoarthritis Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. [books.google.de]

• Disproportionate Short Stature

  Short Stature: Sequencing Panel. [mendelian.co]

  Short Stature with Ptosis and Valvular Heart Lesions distal 10q deletion syndrome Distal Arthrogryposis, with Mental Retardation and Characteristic Facies Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive [rgd.mcw.edu]

  Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature. Osteoarthritis Cartilage. 2008 ; 16 ( 8 ): 890 – 896. 29.. [academic.oup.com]

• Inguinal Hernia

  hernia, and vesical diverticula. [ncbi.nlm.nih.gov]

• Wheelchair Bound

  Patient may become wheelchair-bound by the second decade. Special education may be helpful for those with learning difficulties. [disorders.eyes.arizona.edu]

• Arachnodactyly

  All Rights Reserved [Skip to Content Landing] Download PDF Full Text Cite This Permissions June 1979 Am J Dis Child. 1979;133(6):639-640. doi:10.1001/archpedi.1979.02130060079018 Full Text • We report a case of congenital contractural arachnodactyly [jamanetwork.com]

• Thyroid Nodule

  MORPHOLOGY OF THE PITUITARY 19 THE OPTIC CHIASM IN ENDOCRINOLOGIC 204 PARANEOPLASTIC ENDOCRINE 223 SEX HORMONES AND HUMAN 219 APPROACH TO THE PATIENT WITH 37 ADVERSE EFFECTS OF IODIDE 360 MORPHOLOGY OF THE THYROID 38 NONTOXIC GOITER 366 SYNTHESIS AND 39 THE THYROID [books.google.de]

• Hoarseness

  Aliases & Classifications for Gigantism Advanced Bone Age Hoarse Cry Summaries for Gigantism Advanced Bone Age Hoarse Cry Related Diseases for Gigantism Advanced Bone Age Hoarse Cry Symptoms & Phenotypes for Gigantism Advanced Bone Age Hoarse Cry Drugs [malacards.org]

• Hyperextensible Joints

  joints, long digits, positive thumb signs, flat feet, slightly diminished muscle strength, myopia, astigmatia, inguinal hernia, and vesical diverticula. [ncbi.nlm.nih.gov]

• Oligoarthritis

  However, patients with unilateral wrist disease had more frequently oligoarthritis (52.3%), whereas patients with bilateral wrist disease had more frequently systemic arthritis (52.3%). [ped-rheum.biomedcentral.com]

• Large Ears

  We report on two sibs, a girl, and a boy, with tall stature, long, and triangular faces, prominent foreheads with high frontal hairlines, telecanthus, downward slanting of the palpebral fissures, ptosis of the eyelids, everted lower eyelids, large ears [ncbi.nlm.nih.gov]

• Nystagmus

  Nystagmus and ‘amblyopia’ have also been reported. Several individuals have had retinal detachments. Systemic Features: Only a small number of families have been reported. [disorders.eyes.arizona.edu]

  Mental Retardation, and Distinctive Facial Features hypoparathyroidism-retardation-dysmorphism syndrome HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME Hypotonia, Congenital Nystagmus [rgd.mcw.edu]

When should you start a workup? What should you order and when do you refer to endocrinology? We discuss these things and more with our pediatric endocrine consultant. [hippoed.com]

This is particularly helpful in the clinical workup of children with endocrinological disorders where skeletal and pubertal growth is affected. [jemds.com]

In case of high concentrations, these could be accepted as causes of the clinical phenotype, so that the clinician can consider abstaining from further diagnostic workup of the patient. [karger.com]

• Abnormal Thyroid Function Test

  THYROID FUNCTION TEST 47 THYROID DISORDERS OF INFANCY 462 P A RT IV CALCIUM AND BONE METABOLISM 473 MORPHOLOGY OF THE PARATHYROID 51 PARATHYROID HORMONE 497 PHYSIOLOGY OF CALCIUM 52 PARATHYROID HORMONERELATED 512 CLINICAL APPLICATION OF BONE MINERAL [books.google.de]

This indicates that it requires minimal clinical monitoring and usually does not mandate treatment. 2010 S. Karger AG, Basel. [ncbi.nlm.nih.gov]

Aromatase inhibitors (AIs) have been proposed as a modality in the treatment of short stature in boys. [endocrine-abstracts.org]

Treatment Treatment Options: Pamidronate given intravenously seems to have little therapeutic value. Hearing aids can be beneficial. Lensectomy may be of benefit although no reports of cataract surgery have been reported. [disorders.eyes.arizona.edu]

Prognosis - Dwarfism lethal type advanced bone age Not supplied. Treatment - Dwarfism lethal type advanced bone age Not supplied. Resources - Dwarfism lethal type advanced bone age Not supplied. [checkorphan.org]

The prognosis otherwise depends on the underlying cause [patient.info]

When this occurs in a child with a low growth prognosis, parents and physicians often question the use of GnRH agonists to improve height. [academic.oup.com]

BACKGROUND: Significant idiopathic bone age (BA) advancement is defined as BA 2 SD above the mean chronological age (CA) with no underlying etiology. [ncbi.nlm.nih.gov]

Premature adrenarche: etiology, clinical findings, and consequences. J Steroid Biochem Mol Biol (2015) 145:226–36. doi:10.1016/j.jsbmb.2014.06.004 CrossRef Full Text Google Scholar 3. [frontiersin.org]

ISS is a diagnosis of exclusion and thus likely includes many different etiologies. [academic.oup.com]

disproportionately long limbs with an arm span exceeding the height by 5 cm). 26 Patients may demonstrate clinical signs that point to a particular etiology. [aafp.org]

Epidemiology True precocious puberty is thought to have a prevalence of 1 in 5,000 to 1 in 10,000. [patient.info]

Both methodological and epidemiological differences (major increase in obesity in the USA but less in Europe) between the studies probably explain the apparent discrepancies. [academic.oup.com]

Although the pathophysiological mechanism remains uncertain, the results of our study show an independent association between DHEAS SDS and BA SDS in the total cohort as well as in males, females, and pubertal children, indicating a central role for DHEAS [karger.com]

Prevention - Dwarfism lethal type advanced bone age Not supplied. Diagnosis - Dwarfism lethal type advanced bone age Not supplied. Prognosis - Dwarfism lethal type advanced bone age Not supplied. [checkorphan.org]

This indicates that these patients deserve a careful radiographic follow-up and an early aggressive therapy aimed at suppressing joint inflammation in the wrist to prevent progression of joint damage. Disclosure of interest None declared. [ped-rheum.biomedcentral.com]

Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [jamanetwork.com]

As a parent, you can assist your child during these exciting, and sometimes challenging years, by working closely with your pediatrician to establish healthy behaviors, follow preventive care guidelines and manage common illnesses and injuries. [cpmc.org]