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PubMed1976

Bilateral congenital choanal atresia and absence of respiratory distress.

Bilateral congenital choanal atresia is considered a lethal congenital malformation in an obligatory nasal breathing neonate. Described herein are two cases of bilateral choanal atresia associated with craniofacial anomalies who did not present respiratory distress in the neonatal period. Our first patient had a complete unilateral cleft lip which facilitated oropharyngeal respiration. The second patient presented wory distress in the neonatal period by providing an oropharyngeal airway.

Child↗
PubMed2000

[Distraction osteogenesis of the mandible in 2 children with obstruction of the upper respiratory tract due to micrognathia].

A girl approximately 2 years old with Pierre Robin sequence had periods of nocturnal respiratory insufficiency as a consequence of micrognathia and a boy nearly 4 years old with Nager syndrome and tracheostomy was retarded in his speech development, had problems swallowing and often had respiratory tract infections. The obstruction of the upper respiratory tract was resolved by performing a distraction osteogenesis of the lower jaw. A tracheostomy was avoided or else removed. The girl became more active and there was an improvement in the boy's speech development. Distraction osteogenesis is a good alternative to the current practice of mandibular reconstruction in micrognathic patients, which involves extensive bone grafts.

Child, Preschool↗
PubMed2001

[Do all patients with mandibular hypoplasia present difficulty in endotracheal intubation?].

On 7 patients with Pierre-Robin syndrome (PR), 8 patients with first and second brachial arch syndrome (BA) and 7 patients with Treacher Collins syndrome (TC), we examined retrospectively the number of patients whom anesthesiologists found difficult to perform laryngoscopy and intubation, the number of attempt necessary for proper insertion of the tracheal tube, the number of patients in whom the endotracheal intubation with laryngoscopy was given up and the time necessary for endotracheal intubation. We compared these with those from 22 control patients. Our results suggest that the difficult laryngoscopy and intubation are more frequent in TC. On the other hand, most of PR and BA may not present difficulty in intubation.

Child↗
PubMed1975

Goldenhar's syndrome associated with cardiac malformations.

A case of Goldenhar's syndrome associated with cardiac malformations such as single ventricle, atresia of pulmonary artery, and patent ductus arteriosus is described. The association of cardiac malformations with Goldenhar's syndrome is very rare and suggests that it is necessary to perform a careful clinical evaluation in this syndrome whether or not additional malformations may exist in visceral organs.

Abnormalities, Multiple↗
PubMed2001

Genetic mutations in certain head and neck conditions of interest to the dentist.

This article identifies certain syndromes of the head and neck, which a dentist may see in clinical practice, and relates these syndromes to their sites of mutation on involved genes. This paper is timely with the near completion of the Human Genome Project, the mapping of the entire human genetic material. Knowing the site of the genetic lesion is important in helping clinicians understand the genetic basis for these conditions, and may help in our future understanding of remedies and treatments.

Amelogenesis Imperfecta↗
PubMedDate not supplied

Temporomandibular region in the Franceschetti's Syndrome. Anatomical study.

Franceschetti's syndrome is a rare, non-fatal, hereditary malformation, usually bilateral, which symmetrically affects orbits, mandible and ear. The authors propose an anatomical description of the temporomandibular region after the dissection of a newborn baby suffering from Franceschetti's Syndrome, dead soon after the birth. A discussion on the different etiopathogenical theories is made. The authors conclude that an alteration of the development of nerve trigeminal branches is the cause of the malformations.

Ear Canal↗
PubMed1999

[Syndromes 11. Treacher collins syndrome].

Treacher Collins syndrome is seen once in 10.000 births. Inheritance is autosomal dominant with variable expressivity. The most prominent symptoms are antimongoloid slant of the eyelids, hypo- or even aplasia of the zygomata, very hypoplastic mandible with receding chin, deformed ear lobes and conductive hearing loss. With two to three operations a considerable improvement can be achieved. The correction of the eyelids is often the most difficult problem.

Ear↗