The airway management of syndromic pediatric patients is an ongoing challenge for the anesthesiologist. craniofacial abnormalities and multiple system anomalies in Edward syndrome children require special consideration during perioperative period. We hereby report successful 8-year-old male child with Edward’s posted laparoscopic orchidopexy.

Syngnathia (bony fusion of the upper and lower jaw) is a rare human congenital condition, with fewer than sixty cases reported in the literature. Syngnathia typically presents as part of a complex syndrome comprising widespread oral and maxillofacial anomalies, but it can also occur in isolation. Most cartilage, bone, and connective tissue of the head and face is derived from neural crest cells...

PURPOSE To review the intracranial and facial imaging features in children with congenital anophthalmos. METHODS We retrospectively studied eight children with anophthalmos with respect to intraorbital, intracranial, and craniofacial anomalies (six had CT examinations, including the face, orbits, and brain, and four had MR imaging, including the orbits and brain). RESULTS Three patients had...

Synophthalmia is a form of cyclopia, in which some elements of two eyes are fused and form a single eye in the middle region of the forehead. The head of a Holstein female calf born from a 5-year-old cow was referred to Department of Pathology, School of Veterinary Medicine, Shahrekord University due to multiple congenital anomalies. The calf had been slaughtered immediately after birth due to ...

E-mail mariapia.villa@uniroma1.it Obstructive sleep apnoea syndrome (OSAS) is a disorder of breathing during sleep characterised by prolonged partial airway obstruction and/ or intermittent complete obstruction (obstructive apnoea) that interrupts normal ventilation during sleep and disrupts normal sleep pattern, affecting about 2–3% of children [1, 2]. Although adenotonsillar hypertrophy remai...

Introduction: Orofacial clefts are among the most common congenital anomalies. Patients presenting with orofacial clefts often require surgery or other complex procedures. A cleft lip or palate can be a single anomaly or a part of multiple congenital anomalies. The reported prevalence of cleft disease and associated anomalies varies widely across the literature, and is dependent on the diagnost...

Axenfeld-Rieger syndrome (ARS) (OMIM Nr.: 180500) is a rare autosomal dominant disorder (1 : 200000) with genetic and morphologic variability. Glaucoma is associated in 50% of the patients. Craniofacial and dental anomalies are frequently reported with ARS. The present study was designed as a multidisciplinary analysis of orthodontic, ophthalmologic, and genotypical features. A three-generation...

Ribosome biogenesis is a global process required for growth and proliferation of all cells, yet perturbation of ribosome biogenesis during human development often leads to tissue-specific defects termed ribosomopathies. Transcription of the ribosomal RNAs (rRNAs) by RNA polymerases (Pol) I and III, is considered a rate limiting step of ribosome biogenesis and mutations in the genes coding for R...

Point mutations in TBX1 can recapitulate many of the structural defects of 22q11 deletion syndromes (22q11DS), usually associated with a chromosomal deletion at 22q1.2. 22q11DS often includes specific cardiac and pharyngeal organ anomalies, but the presence of characteristic craniofacial defects is highly variable. Even among family members with a single TBX1 point mutation but no cytological d...

Distraction osteogenesis is a treatment modality for the correction of bone anomalies and abnormalities which are either pathological or developmental in origin. Its use in the field of dentistry began in the late twentieth century. Successfulresults from clinical trials has led to more researchers to explore this field. Its use in dentistry involves the correction of craniofacial anomalies, al...