Catel-Manzke syndrome is a rare autosomal recessive disorder characterized by Pierre Robin sequence with hyperphalangy and clinodactyly of the index finger. Recently, homozygous or compound heterozygous pathogenic variants in TGDS have been discovered to cause Catel-Manzke syndrome. Here, we describe a 12-month-old male with molecularly confirmed Catel-Manzke syndrome who presented with Pierre ...

During a 10-year period 55 patients with the Robin anomalad were admitted to the Liverpool Regional Cleft Palate Units. Fourteen (25%) children died. All deaths were within 3 months of birth. Congenital abnormalities other than mandibular retrognathia and cleft palate were present in 14 (26%) children. Peripheral limb defects were particularly common. Thirty children were recalled and reviewed ...

A review of relevant published reports seems to indicate that in the case of babies suffering from intermittent airway obstruction due to a combination of micrognathia, glossoptosis, and often cleft of hard and soft palate (the Pierre Robin syndrome), successful treatment usually includes surgery of one kind or another. However, some non-surgical methods have been advocated. Pierre Robin (1934)...

Introduction: Stomatologist Pierre Robin first described this syndrome in 1923 as a triad of micrognathia (small and symmetrically receding mandible), glossoptosis (tongue obstructing the posterior pharyngeal space), upper airway obstruction. The aim present systematic literature review is to describe relevant information for proper diagnosis treatment Syndrome. Materials Methods: A search scie...

awake intubation is the choice for airway management in anticipated difficult airway (da), which means establishing airway without induction of deep sedation; however, in cases where sedation is precarious, decision in emergency situations, success in awake intubation is dependent on proper regional airway block. a 21 year old man with bilateral temporo-mandibular ankyolosis and a 25 years old ...

Babies with Pierre Robin syndrome have serious life-threatening risks because of acute respiratory distress and difficult airway management. It is difficult to perform endotracheal intubation in these babies for general anesthesia. We present successful insertion of laryngeal mask airway in a neonate with typical clinical features of Pierre-Robin syndrome using a size 1 laryngeal mask airway fo...

BACKGROUND Pierre Robin sequence (PRS) refers to the association of micrognathia, glossoptosis, and airway obstruction. Cases with severe dyspnea due to upper airway obstruction immediately after birth are very rare. We here report two cases with PRS who developed severe dyspnea due to morphological abnormality immediately after birth and were rescued by fiberoptic nasotracheal intubation. CA...