Presentation
The child will present with a very small or receding chin and the tongue will appear large. The cleft in the palate will have a U-shape, which is more typical of clefts formed due to Pierre Robin sequence. [richmondplasticsurgeons.com]
Worthy of note are a few features present in our patient and not described in the other patients with MAGEL2 mutations. [nature.com]
Baseline echocardiography is not recommended based on these findings alone but depend on other symptoms and differential diagnoses upon presentation. [onlinelibrary.wiley.com]
Autoimmune enteropathy is primarily diagnosed in children presenting with intractable secretory diarrhea and villous atrophy. Autoimmune enteropathy is occurs as a result of antibodies directed against intestinal epithelial and goblet cells. [emedicine.medscape.com]
Entire Body System
- Feeding Difficulties
She has had feeding difficulties and oropharyngeal dysphagia and currently eats soft food and liquids, but nothing solid. Figure 1: Facial, hand and foot phenotypes of patient P7. [nature.com]
Treatment
Treatment of Pierre Robin Sequence The most important goal in treatment of Pierre Robin sequence is making sure the child is able to breathe adequately. [richmondplasticsurgeons.com]
Treatment of functional GI complaints in hEDS is problematic due to the absence of tailored strategies and an apparent resistance to pharmacologic treatments at standard dosages/regimens. [onlinelibrary.wiley.com]
Etiology
Unfortunately, unlike the other types of EDS, hEDS has no known genetic etiology responsible for any significant portion of this population. [onlinelibrary.wiley.com]
Epidemiology
Based on data obtained from a large epidemiological study undertaken on a population of 12,853, 3.4% had joint hypermobility and widespread pain which was been used as a proxy for hEDS [Mulvey et al., 2013]. [onlinelibrary.wiley.com]
Pathophysiology
There was also an increase in retro‐odontoid pannus formation, a pathophysiologic process thought to represent abnormal stress of the transverse ligament. [onlinelibrary.wiley.com]
Prevention
Pain Primary prophylaxis and treatment of nociceptive pain relies upon physical approaches to improve joint stability and prevent or reduce myofascial spasm. [onlinelibrary.wiley.com]