Anorectal Malformation: An Atypical Association of Pierre Robin Sequence

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...

اانجام بیهوشی عمومی برای خدمات دندانپزشکی یک بیمار مبتلا به Pierre Robin Sequence: گزارش مورد

مقدمه:Pierre Robin Sequence که قبلاً به عنوان سندروم پیر روبین نامیده می‏شد، شامل سه ناهنجاری مادرزادی ماندیبول کوچک، عقب افتادگی زبان و شکاف کام می‏باشد. به طوری که نقص اولیه عامل ایجاد نقص بعدی است. نوزادان مبتلا به این بیماری با مشکلات انسداد راه هوایی، بازگشت محتویات معده به مری وتغذیه همراهند. مداخلات صورت گرفته اغلب جهت حفظ یک راه هوایی باز است. شرح مورد: یکی از مشکلات اصلی با توجه به کو...

سندرم پیرروبین ( THE PIERRE ROBIN SYNDROME )