Presentation
RESULTS: In the present study, we have demonstrated that the collagen production, secretion and degradation in Sotos syndrome is comparable to controls. [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]
Entire Body System
- Precocious Puberty
OBJECTIVE: Diagnosis of central precocious puberty has always been challenging in clinical practice. [ncbi.nlm.nih.gov]
Precocious puberty can be either gonadotropin dependent or gonadotropin independent. Gonadotropin dependent precocious puberty is frequently idiopathic, but not in boys. “Boys get precocious puberty, but it's almost never benign,” said Francis. [healio.com]
Gonadotrophin-dependent precocious puberty (central precocious puberty (CPP)) This is also known as true precocious puberty. Premature activation of the hypothalamic-pituitary-gonadal (HPG) axis occurs. [patient.info]
Very rarely, central precocious puberty has a medical cause, like an infection or growth in the brain. Peripheral precocious puberty, also known as peripheral precocity, is less common. [webmd.com]
A Story for Girls Starting Puberty Early By Carolina C. Di Blasi, M.D. and Robin Wallace-Wright Precocious Puberty or Central Precocious Puberty can be very confusing and truly unexpected. [magicfoundation.org]
- Pain
Narrative Medicine Nephrology Neurology Neuroscience and Psychiatry Notable Notes Nursing Nutrition Nutrition, Obesity, Exercise Obesity Obstetrics and Gynecology Occupational Health Oncology Ophthalmic Images Ophthalmology Orthopedics Otolaryngology Pain [jamanetwork.com]
Disorders that bring the pediatric patient into chiropractic offices are back pain or scoliosis. An AP lumbar film is often taken, depending on the history and symptoms. If an AP lumbar film is available no further X-rays are needed. [dynamicchiropractic.com]
Other side effects your child may experience include redness and slight pain at the injection site. Rarely, a sterile abscess may occur. Use of a filter needle to reconstitute the depot form of the analog will help prevent this. [magicfoundation.org]
Stomach pain and being excessively tired are also symptoms of undertreatment. The blood pressure can provide clues about mineralocorticoid (Florinef, fludrocortisone) treatment. [caresfoundation.org]
[…] determine the heights of their children; most children also follow their parents' pubertal tempos; certain genetic disorders can lead to short or tall stature Review of systems Energy level; sleep patterns; headaches; visual changes; vomiting; abdominal pain [aafp.org]
- Disproportionate Short Stature
Short Stature: Sequencing Panel. [mendelian.co]
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]
Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature. Osteoarthritis Cartilage. 2008 ; 16 ( 8 ): 890 – 896. 29.. [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]
Gastrointestinal
- Abdominal Pain
pain; diarrhea and constipation; status and progress of sexual maturation; medical conditions, such as polyuria, polydipsia, oliguria A thorough systemic review evaluates the functional capacity of various body systems Social history Home and school [aafp.org]
Skin
- No Pubic Hair
I have a question for you all - we recently started seeing an endocrinologist for premature adrenarche (premature pubic hair) and advanced bone age. [inspire.com]
Treatment for premature adrenarche There is no treatment that will cause the pubic and/or underarm hair to go away. [healthychildren.org]
Black children may develop pubic hair as early as age 6 while white children may develop pubic hair as early as age 7. [healio.com]
We had not noticed any body odour, but he started growing pubic hair at the age of 8 or 9. Most worrying was his verbal aggression and still is. [dailystrength.org]
Don’t even get him started on the relationship between pubic-hair growth and puberty. “Any paper linking pubic hair with early puberty is garbage. Gar-bage. Pubic hair just means androgens, or male hormones. [nytimes.com]
- Hypertrichosis
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]
Muelenaere Syndrome Heme Oxygenase 1 Deficiency hereditary spastic paraplegia 23 hereditary spastic paraplegia 9A Hersh Podruch Weisskopk Syndrome Holoprosencephaly 10 Hooft Disease Hunter-McAlpine Syndrome Hutterite Cerebroosteonephrodysplasia Syndrome Hypertrichosis [rgd.mcw.edu]
Musculoskeletal
- Advanced Bone Age
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]
Symptoms - Dwarfism lethal type advanced bone age Not supplied. Causes - Dwarfism lethal type advanced bone age Not supplied. Prevention - Dwarfism lethal type advanced bone age Not supplied. [checkorphan.org]
Children treated with 13-cis-RA are at risk for advanced bone age that may dramatically impact their linear growth. [ncbi.nlm.nih.gov]
Our pediatrician ordered the advanced bone age test after we noticed the pubic hair and we found that some of Katelyn's bones are as much as 2 years advanced (in her left hand). [inspire.com]
- Macrocephaly
[…] with Multiple Epiphyseal Dysplasia and Distinctive Facies MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome macrocephaly-autism syndrome Macrosomia Adiposa Congenita Madelung Deformity [rgd.mcw.edu]
She was noted to have relative macrocephaly (Head circumference >2 SDS), mild bilateral genu valgum, and short thumbs ( Figure 3 H). Laboratory evaluation was normal ( Supplemental Table 1 ). [academic.oup.com]
Neurologic
- Confusion
I'm just hoping to talk to someone who's been there, because I'm a little confused at the moment. My son's aggression is really starting to worry me; he's a different person. [dailystrength.org]
They are expected to act as old as they look and this is confusing for children. This in combination with other factors leads to a time of great stress. We are here to help parents! [magicfoundation.org]
Menstruation can be confusing or even frightening for some very young girls. Partnering With Your Child's Doctor If you think your child is showing signs of early puberty, don't delay in getting help. [webmd.com]
Although it may seem that monitoring and testing in CAH is confusing, there are several approaches that can be used to adequately assess hormone production. [caresfoundation.org]
- Irritability
Girls will often experience moodiness and become more irritable during puberty. Boys normally develop testicular enlargement and then pubic hair between the ages of 9 and 14 years. [magicfoundation.org]
Workup
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]
Treatment
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
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]
Etiology
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
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]
Pathophysiology
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
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]