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]

A question and answer section at the end of the book presents 100 board-format questions with complete rationales. [books.google.de]

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]

• Short Stature

  Stature Syndrome, Brussels Type SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES Short Stature, Onychodysplasia [rgd.mcw.edu]

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

  Definition An autosomal dominant disease characterized by short stature, advanced bone maturation, early-onset osteoarthritis, and mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. [uniprot.org]

  In survivors of neuroblastoma, short stature is consistently observed. Causes include growth hormone deficiency and poor growth of irradiated long bones. [ncbi.nlm.nih.gov]

  Instead, a large proportion of children with short stature are given the diagnosis, idiopathic short stature (ISS). [academic.oup.com]

• Weakness

  […] boys (which, if present, often point to the diagnosis of true precocious puberty ) Many children are greater than average in height, and often are above the 90th percentile Hormonal basis PA is caused by an earlier-than-normal increase in production of weak [healthychildren.org]

  First, excess androgen exposure in PA could lead to increased peripheral conversion of weak adrenal androgens to more potent androgens and estrogens. [frontiersin.org]

  (Kinesiologists believe that weak muscles indicate illness, and that a patient’s muscles will test as weaker when he or she is holding a substance that contributes to health problems.) [nytimes.com]

• Developmental Disorder

  DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES INTELLECTUAL DEVELOPMENTAL [rgd.mcw.edu]

  Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. J Med Genet. 2014 ; 51 ( 1 ): 45 – 54. 26.. [academic.oup.com]

• Hyperpigmentation

  Developmental Delay, and Neonatal Hypotonia Milner Khallouf Gibson Syndrome Mitochondrial Myopathy with Lactic Acidosis Mollica Pavone Antener Syndrome Morillo-Cucci Passarge Syndrome Mowat-Wilson syndrome Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation [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]

• Delayed Bone Age

  Those with advanced bone ages typically hit a growth spurt early on but stop growing early sooner while those with delayed bone ages hit their growth spurt later than normal. [ipfs.io]

  A delay in bone age often coincides with a late growth spurt. [pediatricpartners.blogspot.com]

  […] deficiencies (Significant delay in Bone Age) versus syndromic short stature (No delay in Bone Age). [jemds.com]

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

Once treatment is started. monitoring occurs every 1-3 months. Response to treatment varies with age of initiation. Some studies have suggested that kids don't benefit from treatment beyond age 11. [webmd.com]

[…] of treatment – – Predicted height before treatment + + Duration of treatment + + Growth velocity during the last year of treatment + Height at the end of treatment + + Bone age at the end of treatment – – Predicted height at the end of treatment + ‘+ [academic.oup.com]

In the last decade, 13-cis-retinoic acid (13-cis-RA) has been added to the treatment of patients with high-risk neuroblastoma. In survivors of neuroblastoma, short stature is consistently observed. [ncbi.nlm.nih.gov]

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]

The etiology and the pathogenesis of Sotos syndrome still remains unclear. [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]

[…] whereas most children with Klinefelter syndrome have an increased arm span and eunuchoid proportions (i.e., 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]

Preventive Services Task Force guidelines. By Ryan Jaslow Updated on: July 30, 2012 / 5:39 ... The case of Beckett Brennan - CBS News https://www.cbsnews.com/news/the-case-of-beckett-brennan/ The case of Beckett Brennan. ... [search.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]

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]

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]