Cleft palate in Pierre Robin sequence

Reply: Outcomes of Cleft Palate Repair in Patients with Pierre Robin Sequence: A Matched Case-Control Study.

BMPR1B mutation causes Pierre Robin sequence

BACKGROUND We investigated a large family with Pierre Robin sequence (PRS). AIM OF THE STUDY This study aims to determine the genetic cause of PRS. RESULTS The reciprocal translocation t(4;6)(q22;p21) was identified to be segregated with PRS in a three-generation family. Whole-genome sequencing and Sanger sequencing successfully detected breakpoints in the intragenic regions of BMRP1B and G...

Pierre Robin sequence: a "Stickler" situation?

HISTORY OF PRESENT ILLNESS The patient was born to a healthy gravida 2, para 2, 27-year-old woman. There was no intrauterine exposure to medications, alcohol, recreational drugs, or tobacco. The infant was delivered vaginally at 38 weeks’ gestation in a local hospital. Her statistics at birth were as follows: weight, 3.58 kg (25th to 50th percentile); length, 51 cm (50th percentile); head circu...

Pierre Robin sequence and obstructive sleep apnea.

The case of a 12-year-old female patient with Pierre Robin sequence is reported, in which reduction of the pharyngeal airway leads to obstructive sleep apnea syndrome (OSAS) and excessive daytime sleepiness. Radiological evaluation, computerized tomography and magnetic resonance image showed bilateral temporomandibular ankylosis. Cephalometric data evidenced marked reduction of the posterior ai...

Abstract: Pre-Operative Polysomnography Before Cleft Palate Repair – Is it Indicated in Severe Robin Sequence?

Methods: Twenty-four Sprague Dawley rats were divided into 2 groups. All underwent left sciatic nerve injury, leaving a 10mm gap. The injury was repaired using either: 1) Reverse autograft – the 10mm cut segment was oriented 180° and used to coapt the proximal and distal ends or 2) UBM conduit the 10mm nerve gap was bridged with UBM conduit. Validated behavior assessments such as Sciatic Functi...