Thoracolaryngopelvic dysplasia
Alternate Names
TLPD; Barnes syndrome; Autosomal dominant thoracolaryngopelvic dysplasia
Clinical features
Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.
Epidemiology
Prevalence is unknown but less than 10 cases have been reported in the literature so far.
Signs and symptoms
- Patients present with severe respiratory distress (requiring intubation) during the neonatal period.
- The rib shortening is less severe than in Jeune syndrome and the thorax is characteristically small, narrow and bell-shaped.
- The pelvis is reduced in all dimensions and the combination of the thorax anomalies and the small pelvis give the appearance of a protruding abdomen.
- Subglottic stenosis has also been described but it remains unclear whether this is a congenital anomaly or is secondary to long-term intubation.
- In addition, several cases of thoracopelvic dysostosis (without laryngeal involvement) have been described, which could represent heterogeneous expression of the same syndrome or a distinct entity.
Inheritance
Diagnosis
Diagnosis is through a combination of history, physical examination, X-rays, CT and or MRI scans
Treatment
Treatment is supportive
NIH genetic and rare disease info
Thoracolaryngopelvic dysplasia is a rare disease.
| Rare and genetic diseases | ||||||
|---|---|---|---|---|---|---|
|
Rare diseases - Thoracolaryngopelvic dysplasia
|
Resources
| Additional resources | ||
|---|---|---|
|
Thoracolaryngopelvic dysplasia
|
<html><link rel="canonical" href="https://wikimd.com/wiki/Thoracolaryngopelvic+dysplasia">
<meta name=”viewport” content=”width=device-width, initial-scale=1″>
</html>
Ad. Transform your life with W8MD's
GLP-1 weight loss injections special from $29.99
W8MD Medical Weight Loss, Sleep and Medspa offers physician-supervised medical weight loss programs: NYC medical weight loss Philadelphia medical weight loss
Affordable GLP-1 Weight Loss ShotsAffordable GLP-1 Weight Loss Shots
Budget GLP-1 injections NYC (insurance & self-pay options) Popular treatments:
- Semaglutide starting from $29.99/week
- Tirzepatide starting from $45.00/week
✔ Most insurances accepted for visits ✔ Prior authorization support when eligible
Start your physician weight loss NYC journey today:
📍 NYC: Brooklyn weight loss center 📍 Philadelphia: Philadelphia weight loss center
📞 Call: 718-946-5500 (NYC) | 215-676-2334 (Philadelphia)
Tags: Affordable GLP1 weight loss NYC, Wegovy NYC, Zepbound NYC, Philadelphia medical weight loss
|
WikiMD Medical Encyclopedia |
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
