2016-12-02T01-57-08Z
Source: Medicine Science | International Medical Journal
Bayram Ali Dorum, Hilal Ozkan, Nilgun Koksal.
Escobar syndrome is a rare disorder that is a nonlethal variant of multiple pterygium syndromes. It is usually diagnosed in utero on fetal ultrasound and then confirmed in the neonatal period. Escobar syndrome is characterized by arthrogryposis multiplex congenita, excessive pterygia, congenital contractures, and abnormal facial appearance. It manifests as an autosomal recessive condition, and is caused by homozygous or compound heterozygous mutation of the CHRNG gene. Other variable features include growth retardation, congenital respiratory distress, ptosis, low set ears, cleft palate, and cryptorchidism. In this article, a newborn patient with Escobar syndrome was presented to share difficulties in the neonatal period, and the clinical features were discussed in the light of the literatüre.
http://ift.tt/2fNyiqT
Παρασκευή 2 Δεκεμβρίου 2016
Escobar syndrome: non-lethal multiple pterygium syndrome case report
Εγγραφή σε:
Σχόλια ανάρτησης (Atom)
Δημοφιλείς αναρτήσεις
-
Publication date: Available online 4 January 2018 Source: European Journal of Radiology Author(s): Peiyao Zhang, Jing Wang, Qin Xu, Zhen...
-
Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182, Butyric Acid from Probiotic Staphyloco...
-
Does CBD Oil Lower Blood Pressure? This article was originally published at SundayScaries." Madeline Taylor POSTED ON January 13, 20...
-
Medicine by Alexandros G. Sfakianakis,Αλέξανδρος Γ. Σφακιανάκης A Novel Technique for Endoscopic Repair of Large Anterior Skull Base Defect...
-
2016-11-22T07-55-59Z Source: International Journal of Medical Science and Public Health Banothu Srinivas, Madhu Mohan Reddy B. Backgrou...
-
2016-10-15T06-30-01Z Source: The Southeast Asian Journal of Case Report and Review Sangita Deepak Kamath, Neeraj Jain, Saurabh Pathak, Ba...
-
BACKGROUND AND PURPOSE: Lesion load is a common biomarker in multiple sclerosis, yet it has historically shown modest association with cl...
-
Abstract The development of focused ion beam-scanning electron microscopy (FIB-SEM) techniques has allowed high-resolution 3D imaging of n...
-
Vol.48 No.2 from #AlexandrosSfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/1S2Z7n2 via IFTTT
Δεν υπάρχουν σχόλια:
Δημοσίευση σχολίου