Early Transient Prenatal Ultrasound Features of Choanal Atresia.

We present a case series of early second-trimester prenatal ultrasound (US) features in 4 fetuses with a confirmed diagnosis of choanal atresia. The clinical characteristics and outcomes evaluated included prenatal US findings, genetic analyses, postmortem autopsies (2 cases), and computed tomographic findings. A transient large nasal cavity was detected by US in all 4 fetuses. This finding disappeared a few weeks later. Three cases were unilateral choanal atresia, and 1 was bilateral. Transient enlargement of the nasal cavity in early pregnancy appears to be a US sign of choanal atresia.

Congenital nasal obstruction: clinical and radiologic review.

Congenital nasal obstruction can result in neonatal respiratory distress because neonates are obligate nasal breathers. Therefore, all physicians who deal with infants should be familiar with the structural abnormalities, masses, and syndromes that cause nasal obstruction, so that appropriate work-up and treatment can be promptly initiated. This paper reviews the embryology of the nasal passage and then continues with the different causes of nasal obstruction. Special attention is paid to the presentation, physical exam findings, and imaging modality of choice.

Carbimazole embryopathy-bilateral choanal atresia and patent vitello-intestinal duct: a case report and review of literature.

BACKGROUND: In utero exposure to carbimazole for maternal hyperthyroidism has been reported to cause choanal atresia. There are case reports of patent vitello-intestinal duct and Meckel's diverticulum in similar association. CASE: We report another such instance of an infant who was exposed to carbimazole in utero, presenting with bilateral choanal atresia and patent vitello-intestinal duct. CONCLUSIONS: As there seems to be no reports of a possible association between propylthiouracil and congenital malformations, it may be safer to use propylthiouracil instead of carbimazole.

Choanal atresia: embryologic analysis and evolution of treatment, a 30-year experience.

OBJECTIVES: Choanal atresia (CA) is a congenital obstruction of the posterior nasal apertures. Multiple surgical techniques have been proposed to repair the atresia. The purpose of this study is to review the basic science and embryology of CA with emphasis on the senior author's extensive experience, and refinement of the treatment of CA. In addition, we will review the outcomes after surgical correction of pediatric patients with CA. PATIENTS AND METHOD: : Retrospective review of 73 pediatric patients. Demographic information was recorded, including type of CA, concomitant medical problems, surgical method, and date of last follow-up by the surgeon. RESULTS: Our series show a 1.6:1 ratio of unilateral atresia to bilateral atresia. The incidence in males and females is statistically equal. High-arched palate and cross-bite deformities are particularly present if the patients undergo the transpalatal approach in the first year of life. The senior author has evolved to favoring the endoscopic approach, having a minimal long-term complication rate, and low stenosis rate (12%). CONCLUSIONS: The first repair of choanal atresia is the one most likely to succeed. The nasal endoscopic technique is the favored technique. It has the advantages of a low restenosis rate, does not violate the palate, and does not cause the cross-bite and palate arch deformities seen in the transpalatal technique.

Choanal Atresia and Craniosynostosis: Development and Disease.

A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis. Review of over 50 case reports that describe patients diagnosed with both conditions reveals inconsistent descriptions of choanal atresia and limited use of definitive diagnostic methodologies. The authors further present preliminary analysis of three-dimensional medical head computed tomographic scans of children diagnosed with craniosynostosis syndromes (e.g., Apert, Pfeiffer, Muenke, and Crouzon) and typically developing children and, although finding no evidence of choanal atresia, report the potentially reduced nasal airway volumes in children diagnosed with Apert and Pfeiffer syndromes. A recent study of the Fgfr2c Crouzon/Pfeiffer syndrome mouse model similarly found a significant reduction in nasal airway volumes in littermates carrying this FGFR2 mutation relative to unaffected littermates, without detection of choanal atresia. The significant correlation between specific craniosynostosis syndromes and reduced nasal airway volume in mouse models for craniosynostosis and human pediatric patients indicates comorbidity of choanal and nasopharyngeal dysmorphologies and craniosynostosis conditions. Genetic, developmental, and epidemiologic sources of these interactions are areas particularly worthy of further research.

Maturational dysautonomia and facial anomalies associated with esophageal atresia: support for neural crest involvement.

Patients with esophageal atresia (EA) or choanal atresia/stenosis (CA) present with many clinical features of maturational dysautonomia (DY). Since CA and DY are considered manifestations of cephalic neurocristopathy, we tested the hypothesis that EA may also be related to faulty development of cephalic neural crest. Forty-eight patients with EA and 53 with CA were followed up to study the frequency of the facial anomalies which are regarded as the phenotypic expression of an abnormal cephalic neural crest contribution to facial embryogenesis. Forty-eight patients with EA and 51 with CA had clinical manifestations of DY. Forty-four patients with EA (91%) and 49 with CA (92%) had one or more facial anomalies. Comparing the groups, patients with EA had an increased frequency of unilateral facial anomalies of branchial arch derivatives (P < .01); those with CA had an increased frequency of anomalies of frontonasal process derivatives (P < .01). These findings support the hypothesis that EA may be related to an abnormal contribution from the cephalic neural crest. The presence of facial anomalies may facilitate the diagnosis of subclinical DY.

Bilateral choanal atresia associated with malformation of the anterior skull base: embryogenesis and clinical implications.

A number of craniofacial and systemic malformations have been described in association with choanal atresia. We report a case of bilateral choanal atresia associated with congenital absence of the cribriform plate, crista galli, and perpendicular plate of the ethmoid bone. The anterior skull base defect was detected by using high-resolution computed tomography with three-dimensional reconstructions. The findings support the mesodermal flow theory of choanal atresia, in which there is excess migration of neural crest cells into the developing nasal septum and posterior choanae. This occurs at the expense of cells that would otherwise form the rest of the ethmoid complex. Clinical implications include the need for adequate preoperative imaging of the anterior skull base and consideration of potential intracranial complications during surgical repair.

Choanal atresia, CHARGE association, and congenital nasal stenosis.

Congenital bilateral narrowing or obstruction of the nasal airway can result in significant respiratory distress in the neonate, requiring emergency intervention. Some of these children have associated congenital malformations that may also impact on the management of the nasal anomaly. The embryology, presentation, and management of this spectrum of disorders are discussed, and the major surgical controversies are reviewed.

Experience with bilateral congenital atresia of the posterior nasal choanae.

Atresia of the posterior nasal choanae is an unusual congenital condition. The embryological explanation is uncertain, that felt to be the most probable being presented here. Bilateral choanal atresia tends to be associated with neonatal airways obstruction and steps to be taken in its diagnosis and management are outlined. The definitive treatment of the condition is surgical excision, by either a trans-nasal or a trans-palatal approach. The conclusions arrived at as to the most effective method of management of these cases from a personal series of fourteen cases are detailed. A preference for the trans-nasal surgical approach is indicated and surgical details for this method are given, some aspects of which have not been previously reported.

The external rhinoplasty for the correction of unilateral choanal atresia in young children.

The external rhinoplasty approach has been utilized in three young children for the correction of unilateral choanal atresia. It has been demonstrated to be technically feasible to utilize this technique in young children. It provides excellent exposure of the atresia plate with the ability to correct the atresia in a precise and confident way. This technique is an elegant alternative to transnasal puncture and transeptal resection.

[Unilateral choanal atresia and paranasal sinus growth]. / Atrésie choanale unilatérale et croissance sinusienne.

Mechanisms regulating sinus growth are poorly understood. We report a series of six cases of unilateral choanal atresia and discuss the role of nasal ventilation on sinus growth. The presence and the size of the sinus cavities are the main parameters. Our preliminary results suggest that sinus growth is independent of nasal ventilation.

[Choanal atresia: review of embryology and pathogenesis]. / Atresia de coanas: revisión de la embriología y patogenia.

In the paper a study on the embryology and pathogeny of choanal atresia is presented, with particular reference to its association with other congenital malformations. The experience of the AA., gained through 10 of those cases seen at the ENT-department of the Servasa Hospital, Alicante, is the low incidence of coexisting malformations. They emphasize one case of familiar presentation (mother-daughter), other with eye coloboma and bifid uvula coexistence and a last one with a sensorineural deafness of moderate degree.

Agnathia (severe micrognathia), aglossia and choanal atresia in an infant.

A neonate is reported here, who was born with severe mandibular hypoplasia, complete absence of the tongue, unilateral choanal atresia, contralateral choanal stenosis and developed severe airway obstruction at birth. Arrested development of the ventral first branchial arch most likely underlies the clinical deficits. Most reported cases of agnathia have been lethal but the infant reported here has survived into infancy with a tracheostomy and feeding gastrostomy. Her clinical features, assessment and management are discussed.

Kallmann syndrome associated with choanal atresia.

Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. A previously unreported association of Kallmann syndrome and choanal atresia in a family is reported. The mechanism of the embryopathic association of hypogonadotropic hypogonadism, anosmia, and choanal atresia is though to be due to a single developmental field defect in the region of the median forebrain and associated structures. An irregular autosomal dominant mode of inheritance is suspected.

A newborn lethal defect due to inactivation of retinaldehyde dehydrogenase type 3 is prevented by maternal retinoic acid treatment.

The retinoic acid (RA) signal, produced locally from vitamin A by retinaldehyde dehydrogenase (Raldh) and transduced by the nuclear receptors for retinoids (RA receptor and 9-cis-RA receptor), is indispensable for ontogenesis and homeostasis of numerous tissues. We demonstrate that Raldh3 knockout in mouse suppresses RA synthesis and causes malformations restricted to ocular and nasal regions, which are similar to those observed in vitamin A-deficient fetuses and/or in retinoid receptor mutants. Raldh3 knockout notably causes choanal atresia (CA), which is responsible for respiratory distress and death of Raldh3-null mutants at birth. CA is due to persistence of nasal fins, whose rupture normally allows the communication between nasal and oral cavities. This malformation, which is similar to isolated congenital CA in humans and may result from impaired RA-controlled down-regulation of Fgf8 expression in nasal fins, can be prevented by a simple maternal treatment with RA.

[An unusual polymalformation syndrome: "CHARGE association" with unilateral "morning glory syndrome"]. / Un syndrome polymalformatif inhabituel: l'"association CHARGE" à un "morning glory syndrome" unilatéral.

Report of a case of the "CHARGE association" including bilateral papillary coloboma, with an aspect of "morning glory syndrome" on one side. Clinical features of the "CHARGE association" are described; pathogenesis is likely involving cells of neural crests. Discussion, in this field, of the ocular and systemic abnormalities associated with "morning glory syndrome".

Dismorfias mamarias en la población pediátrica y adolescente / Pediatric and adolescent breast dysmorphias

El desarrollo de la mama se presenta entre los 8 y los 13 años de edad y es primer signo de desarrollo sexual secundario. La alteración de las características normales de los senos en una adolescente mujer y el crecimiento mamario en los varones deen ser considerados y en consecuencia estudiados. El cirujano plástico pediátrico debe estar entrenado para diagnosticar y tratar este tipo de dismorfias, así como también contener el impacto psicosocial asociado; para ello debe trabajar interdisciplinariamente con psicólogos y pediatras especialistas en crecimiento y desarrollo.

The development of the breast shows up between 8 and 13 years old in the female patient and is the first sign of sexual development. The distortion of the normal characteristics of the breasts in the adolescent female, as well as the mammary growth in the males must be considered and in consequence studied. The plastic pediatric surgeon must be trained in order to diagnose and manage this type dismorfias holding the associated psicosocial impact working interdisciplinaryly with psychologists, pediatricians and pediatric endocrinologists.