Manga traqueal cartilaginosa. Reporte de dos casos / Tracheal cartilaginous sleeve. Report of two cases

La manga traqueal cartilaginosa es una malformación de la vía aérea donde no se distinguen anillos traqueales. Un segmento continuo de cartílago se extiende desde el cricoides, pudiendo llegar hasta los bronquios principales. Está asociada a síndromes de craneosinostosis con la mutación FGFR2, además de muertes prematuras por oclusión de la tráquea con tapones mucosos. Se presenta el curso clínico de pacientes portadores de manga traqueal cartilaginosa en el contexto de una malformación craneofacial. Caso 1. Masculino, al nacer hipoplasia del tercio medio facial. Polisomnografía: índice de apnea/hipopnea de 37,7/hr. Laringotraqueobroncoscopía (LTBC): tráquea sin anillos cartilaginosos desde cricoides hasta bronquios fuentes. Se indica traqueostomía. Caso 2. Masculino, al nacer cráneo en trébol. Poligrafía: Síndrome de apnea/hipopnea obstructiva del sueño (SAHOS) leve. Revisión vía aérea: desde subglotis hasta bronquios principales se extiende tráquea en manga. Se indica traqueostomía. En el contexto de una craneosinostosis en niños, especialmente con mutación FGFR2, creemos necesario realizar una LTBC en búsqueda de manga traqueal, ya que si es diagnosticada se debe recomendar traqueostomía, mejorando su expectativa de vida. Si la indicación de traqueostomía fuese por SAHOS, es obligatoria una LTBC preoperatoria, para evitar el no tener referencias anatómicas en el proceso.

A tracheal cartilaginous sleeve is a malformation of the airway in which the tracheal rings are indistinguishable. A continuous segment of cartilage extends from the cricoid, and it may reach all the way to the main bronchi. It is associated with various craniosynostosis syndromes with the FGFR2 mutation, in addition to premature deaths due to occlusions caused by mucus plugs in the trachea. Here we present the clinical course of patients who suffer from Tracheal Cartilaginous Sleeve in the context of a craniofacial malformation. First case. Male, presenting at birth a midfacial hypoplasia. Polysomnography: presents a 37,7/h index of apnea/hypopnea. Laryngotracheobronchoscopy (LTB): trachea is without cartilaginous rings from the cricoid to the main bronchi. A tracheostomy is indicated. Second case. Male, cloverleaf skull at birth. Polysomnography: Obstructive Sleep Apnea-Hypopnea Syndrome (OSAHS) non-severe degree. Revision of the airway: the trachea in sleeve extends from the subglottis to the main bronchi. A tracheostomy is indicated. In the context of craniosynostosis in children, especially with FGFR2 mutation, we believe it is necessary to do an LTB in the search of a tracheal sleeve, since if it is diagnosed a tracheostomy must be indicated, to better the life expectancy of the patient. If the tracheostomy indication comes from an OSAHS, a preoperatory LTB is obligatory to avoid not having anatomical references during the procedure.

Asociación del complejo ring-sling con pig bronchus: a propósito de un caso pediátrico / Ring-sling complex association with pig bronchus: a pediatric case report

El complejo ring-sling es una asociación entre el sling de la arteria pulmonar y la estenosis traqueal congénita por anillos traqueales completos. El sling de la arteria pulmonar es una forma rara de anillo vascular dentro de las cardiopatías congénitas. Se presenta el caso clínico de un niño con estridor laríngeo asociado a dificultad respiratoria evaluado en otro centro, donde se realizó endoscopia respiratoria y se observó compresión traqueal extrínseca. Ante la sospecha clínica de anillo vascular, se solicitó angiotomografía computada (angioTC) y se confirmó diagnóstico de sling de arteria pulmonar. Fue derivado a nuestro hospital y durante la intervención quirúrgica se realizó nueva endoscopia respiratoria y traqueobroncografía. Se llegó al diagnóstico de estenosis traqueal congénita con bronquio derecho accesorio (pig bronchus) y anillos vasculares completos, ambos reparados en el mismo acto quirúrgico.

The ring-sling complex is an association between pulmonary artery sling and congenital tracheal stenosis. Pulmonary artery sling is a rare form of vascular ring in congenital heart disease. The clinical case of a child with inspiratory laryngeal stridor associated with respiratory distress is presented, evaluated in another center where respiratory endoscopy was performed, observing extrinsic tracheal compression. Given the clinical suspicion of a vascular ring, CT angiography was requested, confirming the diagnosis of pulmonary artery sling. He was referred to our hospital and during the surgical intervention a new respiratory endoscopy and tracheobronchography were performed, reaching the diagnosis of congenital tracheal stenosis, right accessory bronchus (pig bronchus) and complete vascular rings, both repaired in the same surgical act.

Sirenomelia associated with VACTERL and VACTERL-H syndrome / Sirenomelia asociaciada con síndrome de VACTERL y VACTERL-H

Sirenomelia or mermaid syndrome is an extremely rare congenital lethal malformation with a frequency between 1.5 and 4.2 per 1 000 000 pregnancies.The association of sirenomelia with the VACTERL association is very rare, with twenty cases reported in the literature and only two cases with VACTERL-H. We present two cases of sirenomelia, type I and type II associated with VACTERL-H and VACTERL syndromes and we review the literature. First time pregnancy women aged 15 and 40 years, without harmful habits and diseases, where between 25-27 gestational week (GW) the prenatal study identifies malformative fetus and the pregnancy is interrupted by medical evidence. The fetopathological examination in the first case identified sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal agenesis, ureteral and bladder agenesis, tracheo-esophageal fistule, agenesis of external genitals, monkey fold of the left palm of the hand - VACTERL-H. In the second case, where genetic testing is normal, sirenomelia type II associated with agenesis of external genitalia, anal imperforation, myelomeningocele, dolichocrania, macroglossia, low set ears, left preauricular skin tag, long philtrum, lung hypoplasia, split cadiac apex, single umbilicalis artery, blind end colon, hepatomegaly, accessory spleen, polycystic horseshoe kidney, uterine and vaginal agenesis, presence of two ovaries and duodenal stenosis - VACTERL association. This two cases, lead us to believe that sirenomelia and the VACTERL association are probably different manifestations of a pathogenetic process leading to disorders of blastogenesis at different levels during embryonic development.

La sirenomelia es una malformación congénita y excepcionalmente rara, con una frecuencia entre 1,5 y 4,2 en un millón de embarazos. La combinación de la sirenomelia con el síndrome de VACTERL es igualmente rara. La literatura especializada informa sobre la existencia de una veintena de casos solamente; en lo que respecta a su asociación con el síndrome de VACTERL-H se conocen solo dos casos. Luego de realizar una revisión de la literatura presentamos dos casos de sirenomelia asociada con los síndromes de VACTERL-H y de VACTERL En el estudio se analizaron los primeros embarazos de dos mujeres, edad de 15 y de 40 años, respectivamente, ambas mujeres completamente sanas y sin hábitos viciosos. Entre la vigésima quinta y la vigésima séptima semana gestacional (SG) del embarazo ambas mujeres, el análisis prenatal comprueba la existencia de malformación del feto debido a lo cual los embarazos fueron interrumpidos por prescripción médica. El análisis fetopatológico del primer caso comprueba la existencia de sirenomelia de tipo I asociada con mielomeningocele, hidrocefalia, atresia anal, arteria umbilical única, agenesia bilateral de los riñones y de los ureteres que transportan la orina desde los riñones hasta la vejiga, fístula traqueoesofágica, agenesia de los órganos genitales externos, línea simiesca en la palma de la mano izquierda - VACTERLH. En el segundo caso, en que el análisis genético ha resultado normal, se observó la presencia de sirenomelia de tipo II asociada con agenesia de los órganos genitales externos, atresia anal, mielomeningocele, dolicocrania, macroglosia, orejas bajas, filtrum alargado, hipoplasia pulmonar, ápice cardíaco escindido, arteria umbilical única, colon terminado en ciego, bazo accesorio, poliquistosis renal, riñón en herradura, agenesia vaginal y de útero, presencia de dos ovarios y estenosis duodenal - VACTERL asociación. Los dos casos investigados permiten llegar a la conclusión de que la sirenomelia y su combinación con el síndrome de VACTERL probablemente sean manifestaciones diferentes de un proceso patogenético que conlleva la alteración de la blastogénesis en distintos niveles durante el proceso del desarrollo embrionario.

Neuraxial analgesia in a parturient with the VACTERL association undergoing labor and vaginal delivery / Analgesia neuraxial em uma parturiente com síndrome de Vacterl em trabalho de parto normal

Abstract Introduction: The term VACTERL is an acronym for an association of congenital malformations: including vertebral, anal, cardiac, tracheo-esophageal, renal and limb anomalies. VACTERL anomalies pose a formidable challenge to anesthesiologists. We describe the anesthetic management of a parturient with VACTERL association, who underwent neuraxial analgesia for labor and vaginal delivery. Case report: A 23 year old primigravida at 39 weeks gestation presented in labor at 4 cm cervical dilatation, completely effaced, requesting labor analgesia. Past medical history included VACTERL association with an imperforate anus and a partial endocardial cushion defect, both repaired in early childhood. She also had significant dorso-lumbar scoliosis with an extra lumbar vertebra. An MRI performed at 14 years age revealed the above findings with no spinal cord abnormalities. With a normal neurologic exam, a combined spinal epidural technique was performed. Despite significant scoliosis, the epidural space was identified at approximately the L3-L4 interspace at a depth of 5 cm. Spinal Fentanyl 25 mcg was administered followed by continuous patient-controlled epidural analgesia. The patient experienced excellent pain relief throughout her labor, and had an uneventful vaginal delivery 5 h after epidural placement. Discussion: The rarity of VACTERL association in the obstetric population with its extensive anomalies mandates a multidisciplinary approach in the prenatal period as it can pose major challenges to all health care providers, including airway, ventilatory, cardiac and neuraxial problems. This is the first reported case of a successful and safe neuraxial technique in a laboring patient with the VACTERL association with albeit limited vertebral and spinal cord anomalies.

Resumo Introdução: O termo Vacterl é um acrônimo para uma associação de malformacões congênitas que inclui anomalias vertebral, anal, cardíaca, traqueal, esofágica, renal e dos membros (Limbs em inglês). As anomalias Vacterl representam um enorme desafio para os anestesiologistas. Descrevemos o manejo anestésico de uma parturiente com síndrome de Vacterl submetida à analgesia neuraxial para parto normal. Relato de caso: Paciente primípara, 23 anos, 39 semanas de gestação, apresentava em trabalho de parto 4 cm de dilatação cervical, apagamento completo, exigiu analgesia de parto. A história médica incluía síndrome de Vacterl com ânus imperfurado e defeito parcial do coxim endocárdico, ambos corrigidos na primeira infância. A paciente também apresentava escoliose dorso-lombar acentuada com uma vértebra lombar adicional. Uma RM feita aos 14 anos revelou os achados mencionados acima sem anormalidades na medula espinhal. Com um exame neurológico normal, a técnica anestésica combinada raquiperidural (CRP) foi usada. Apesar de escoliose significativa, o espaço peridural foi identificado próximo ao interespaço L3-L4 a uma profundidade de 5 cm. Fentanyl (25 mcg) foi administrado por via espinhal, seguido de analgesia peridural contínua controlada pela paciente. A paciente sentiu grande alívio da dor durante todo o trabalho de parto; o parto vaginal ocorreu 5 horas após a anestesia CRP sem intercorrências. Discussão: A raridade da síndrome de Vacterl na população obstétrica com suas extensas anomalias exige uma abordagem multidisciplinar no pré-natal porque pode representar grandes desafios para todos os prestadores de cuidados de saúde, inclusive problemas respiratórios, de ventilação, cardíacos e do neuroeixo. Este é o primeiro caso relatado de uma técnica neuraxial bem-sucedida e segura em uma paciente em trabalho de parto com síndrome de Vacterl, embora com anomalias limitadas da coluna vertebral e medula espinhal.

Tracheal agenesis with broncho-esophageal fistula in VACTERL / TACRD association.

Tracheal agenesis (TA) is an extremely rare malformation. We report here autopsy findings in a case of TA with bronchoesophageal fistula of Floyd type III. The other malformations present included laryngeal atresia, Right lung hypolobulation, ventricular septal defect in membranous portion, bilateral cystic renal dysplasia, spleninculus, Meckel's diverticulum, and imperforate anus. The constellations of malformations present in our case have overlapping features with Vertebral anomalies, Anal atresia, Cardiovascular anomalies, Tracheo-esophageal fistula, Esophageal atresia, Renal anomalies, Limb anomalies and Tracheal atresia or laryngo tracheal atresia, Cardiac anomalies, Renal anomalies, Duodenal atresia association described previously in the literature.

Bronquio traqueal / Tracheal bronchio

Tracheal bronchus is considered an anatomical variant or bronchial malformation. Its clinical manifestations are rare, and are due to a failure to drain bronchial secretions. Anatomically it may be a supernumerary or ectopic bronchus. His diagnosis is made by direct visualization of images and airway. Generally its treatment is expectant.

El bronquio traqueal es considerado como una variante anatómica o malformación bronquial. Sus manifestaciones clínicas son infrecuentes, y se deben a una falla para el adecuado drenaje de secreciones bronquiales. Anatómicamente puede tratarse de un bronquio supernumerario o ectópico. Su diagnóstico se realiza mediante imágenes y visualización directa de la vía aérea. En general su tratamiento es expectante.

Agenesia Traqueal: presentación de un caso / Tracheal agenesis: presentation of a case

Se presentó un paciente que nace severamente deprimido por parto natural, a las 35,4 semanas, con peso de 2 620 g. Inmediatamente se comenzaron medidas de reanimación, con bolsa, pero al no mejorar se decide intubación traqueal. Se planteó malformación de vías respiratorias por imposibilidad de lograrlo; al intentar traqueotomía, la tráquea está ausente, planteándose el diagnóstico de agenesia traqueal. A pesar de las medidas terapéuticas tomadas, el paciente fallece 8 horas después del nacimiento. En el estudio patológico se comprobó la presencia de agenesia traqueal tipo II, de acuerdo a la clasificación de Floyd...

We present the case of a patient, who was born severely depressed by natural birth, at 35,4 week, weighting 2 620 g. Immediately he was given reanimation, with bag, but when there was not an improvement, we decided the tracheal intubation. We supposed the malformation of the respiratory ways when the intubation was impossible; when we tried to make a tracheotomy, we did not find the trachea, arriving to the diagnosis of tracheal agenesis. In spite of the taken therapeutic measures, the patient died 8 hours after birth. In the pathologic study we stated type II tracheal agenesis, according to Floyd's classification...

Tracheal resection and end-to-end anastomosis for tracheal stenosis: etiology and outcome

To know the etiology of tracheal stenosis and asses outcome of tracheal resection and end-to-end anastomosis for tracheal stenosis. Descriptive prospective case series. Department of Thoracic Surgery, Combined Military Hospital, Rawalpindi and Quetta from May 2005 to March 2010. Twenty two patients were included in the study who underwent tracheal resection followed by primary tracheal reconstruction by same surgical team. Etiology was ascertained on the basis of available history and per-operative findings. End-to-end tracheal anastomosis was done using vicryl 3/0. Outcome of surgical technique was assessed using peak expiratory flow rate [PEFR] and flexible bronchoscopy. Twenty two patients were managed over a period of five years, of which 17 [77.3%] were male and 5[22.7%] female. Mean patient age was 27.31 +/- 9.61 years. Seven [31.8%] patients had New York Heart Association grade [NYHA]-III and 15 [68.2%] had NYHA grade-IV dyspnoea. Seventeen [77.3%] had stridor. All patients were already being managed by pulmonologists, ENT specialists or intensivists. Twelve [54.5%] had grade-V stenosis [91-100% luminal obstruction] and 9 [40.9%] had cervical tracheal stenosis and 3[13.6%] had mediastinal tracheal stenosis. Six [27.3%] patients had partial cricoid resection followed by thyrotracheal anastomosis, 13[59.1%] patients underwent cervical tracheal anastomosis and 3 [13.6%] patients required mediastinal tracheal anastomosis. Patients were followed up post-operatively for the development of immediate and delayed complications. The follow up was carried out for a minimum period of 6 months to a maximum period of 2 years. Postoperative complications included neck pain, lung collapse, and superficial skin infection. Tracheal resection with end-to-end anastomosis is a safe, reliable and permanent procedure for the treatment of tracheal stenosis

Laryngotracheoesophageal cleft; neonatal presentation and diagnostic challenges

Congenital laryngeal clefts are rare developmental disorders of the upper airway accounting for 0.3% to 0.5% of all congenital anomalies of the larynx. The study is reporting the research team's first experience with this anomaly at the Armed Force Hospital Southern Region to emphasize the difficulties and the challenges in the diagnosis as well as the treatment of such infants. This is a 32 week preterm female infant with antenatal ultrasound diagnosis of isolated esophageal atresia. After delivery the team faced a great difficulty in intubation and passing nasogastric tube. A large NGT size 12FR passed to the stomach, and contrast study showed abnormal anteriorly located esophagus, which suggested a common esophageo-tracheal tract. Esophagogram and soft fibro-optic endoscopy was done by ENT consultant which confirmed the presence of long segment laryngo-trachea-esophageal cleft. The infant was transferred to tertiary center where she died from respiratory failure at the age of 6 months

Anaesthetic management of tracheal agenesis.

Tracheal agenesis is a rare but uniformly fatal congenital condition that obstetricians, neonatologists or anaesthesiologists may encounter as an unexpected emergency. Ventilation with bag and mask or through an endotracheal tube placed in the oesophagus may be the only options left for immediate survival and evaluation. Ventilation and maintenance of adequate oxygenation can be difficult during surgical interventions. We report a case of neonate in which ventilation and anaesthesia were maintained through an endotracheal tube in the oesophagus and frequent episodes of drop in oxygen saturation were observed during surgery. Anaesthetic management, airway and other issues are discussed.

Pulmonary parenchymal alveolar histological study in experimental tracheo-oesophageal malformations / Estudio histológico alveolar y parenquimal pulmonar en malformaciones tráqueo-esofágicas experimentales

OBJECTIVE: Children operated on for tracheo-oesophageal malformation (TOM) often suffer from postoperative respiratory system difficulties. There is little current literature about this subject. This study aimed to investigate the causes of these problems in rats with experimental TOM by evaluating the lung alveolar histology. SUBJECTS AND METHODS: Twenty Wistar albino rats were used for the experiment. Twelve rats with a sperm positive vaginal smear received 1.75 mg/kg intraperitoneal adriamycin on days six to nine of gestation. A sham group was infused with saline instead of adriamycin. A control group was not subjected to any additional procedure. Their fetuses were dissected under surgical microscope. After examining the trachea and oesophagus, the lungs were dissected and fixed in 10% formalin. The groups were compared with respect to alveolar flat cell (Type-1), capillary density and air space percentage in the samples obtained under light microscopy. Statistical evaluation was performed through Mann-Whitney-U tests and Pearson Chi-squared tests. RESULTS: Type-1 cell ratio and air space percentage were the highest for the control and sham groups. However, the group that received adriamycin and developed TOM had the lowest values. There were no statistically significant differences between the groups with respect to capillary density. CONCLUSION: In rats with experimentally produced TOM, the pulmonary parenchyma showed delayed maturation. This could be the cause of the frequently seen respiratory system pathologies in children suffering from TOM. Further studies should be done to elucidate this.

OBJETIVO: Los niños operados por malformaciones tráqueo-esofágicas (MTE) sufren a menudo de dificultades postoperatorias en el sistema respiratorio. En el presente, existe poca literatura sobre este problema. Este estudio va encaminado a investigar las causas de estos problemas en ratas con MTE experimentales, mediante la evaluación de la histología alveolar del pulmón. SUJETOS Y MÉTODOS: Veinte ratas albinas Wistar fueron usadas en el experimento. Doce ratas con frotis vaginal positivo de esperma recibieron 1.75 mg/kg de adriamicina intraperitoneal en los días seis al nueve de gestación. A un grupo de simulación (sham group) se le dio una solución salina en lugar de adriamicina. El grupo de control no fue sometido a ningún procedimiento adicional. Sus fetos fueron disecados bajo microscopio quirúrgico. Luego de examinar la tráquea y el esófago, los pulmones fueron disecados y puestos en formaldehído al 10%. Recurriendo a la microscopía lumínica, los grupos fueron comparados con respecto a células alveolares planas (tipo 1), densidad capilar y porcentaje de espacio de aire en las muestras obtenidas. La evaluación estadística se realizó mediante tests U de Mann-Whitney y tests de Chi-cuadrado Pearson. RESULTADOS: La proporción de células de tipo 1 y el porcentaje de espacio de aire, fueron los más altos para los grupos de simulación y control. Sin embargo, el grupo que recibió adriamicina y desarrolló MTE, tuvo los valores más bajos. Con respecto a la densidad capilar, no hubo diferencias estadísticamente significativas entre los grupos. CONCLUSIÓN: En ratas con malformación MTE producida experimentalmente, el parénquima pulmonar mostró retardo en su maduración. Esto podría ser la causa de las patologías del sistema respiratorio observadas con frecuencia en niños que padecen de MTE. Se requieren estudios ulteriores a fin de dilucidar esta cuestión.

Analysis of tracheobronchial foreign bodies with respect to sex, age, type and presentation

Foreign body inhalation is one of the life threatening emergencies. It may happen at any age, however, most of these accidents occur in children especially below the age of five. This prospective study was done at Department of Otolaryngology, Head and Neck Surgery, Ayub Teaching Hospital, Abbottabad, from 1 January 2003 to 30 June 2005. a total of Eighty one patients, referred from the casualty and Paediatric unit with suspicion of tracheobronchial foreign body were included in the study. Eighty one were studied. Fifty [61.7%] were male and thirty one [38.3%] were female. Sixty three [77.8%] were below five years, thirteen [16%] were between five and fifteen years and five [6.2%] were above fifteen years. Sixty seven patients [82.7%], presented mainly with chocking, while fifty nine patients [72.8%] had stridor and forty five patients [55.6%] had cough at initial presentation. Seventy two [88.9%] patients had decreased air entry and forty two [51.9%] had wheeze on auscultation, whereas cyanosis was noticed in five [6.2%] patients. Peanut was the commonest foreign body, retrieved in forty five patients [55.6%]. Other foreign bodies were whistle [18.5%], maize seed [13.6%], bean seed [6.2%], nuts [2.55], sewing needle with thread, dice and denture [1.2%] each. Foreign body inhalation is more common in male patients, mostly below five years of age. Chocking is the commonest symptom and decreased air entry on auscultation is the typical examination finding. Peanut has been found to be the commonest type of foreign body

[Diagnosis of Airway malacia via virtual bronchoscopy]

The term of malacia refers to softness and in medical terminolog refers to weakness of bone or cartilage. Laryngomalacia is the most common congenital abnormality of larynx and the patient may suffer from recurrent aspiration. Tracheomalacia refers to tracheal weakness and usually results in airway collapse due to cartilage defect. Bronchomalacia is used to describe the weakness and collapsibility of one or both main bronchus. All of the above mentioned diseases can be diagnosed by bronchoscopy but this method is invasive and may interfere with diagnosis, on the other hand it is intolerable in young individual and severly ill, and patients with coagulopathy. This study was conducted to show the role of virtual bronchoscopy in diagnosis of laryngo-tracheo-bronchomalacia. In a peri- experimental study during 3 years [Nov 2003-Oct 2006] 35 patients who had clinical sign and symptom of airway malacia were studied via virtual bronchoscopy. From 35 patients percentage of male and female was 65/7% and 34/3%, respectively and the mean age was 3/7 +/- 1/6 months. The result of virtual bronchoscopy for laryngomalcia, bronchomalacia, tracheomalacia, laryngotracheomalacia and laryngobronchomalacia was 42.8%, 25.7%, 20%, 8.5% and 2.9%, respectively. Virtual bronchoscopy because of non-invasive and speed imaging and excellent ability of assessment of airway stenosis, can be considered as substitution for bronchoscopy

A rare H-type of tracheo-oesophageal fistula in a young boy.

A 9-year-old male child presented with features of recurrent episodes of pneumonia. Following administration of different types of antibiotics, resolution of pneumonia was not complete. Antituberculous drugs were given on two occasions for sufficient period of time without any improvement. Following admission, history of a choking sensation during taking food pointed to perform barium swallow examination of oesophagus which revealed the diagnosis of tracheo-oesophageal fistula.

Development and developmental disorders of the respiratory system

Congenital anomalies of the respiratory system contribute significantly to respiratory stridor and other complications in neonates. They are often associated with abnormalities of other organ systems. The nasal placode deepens to form the nasal sac from which the nasal and olfactory mucosae develop. Paranasal air sinuses develop as extensions of the nasal cavity into the adjacent bony structures. Choanal atresia is probably a result of persistent oronasal membrane. The laryngotracheal primordium grows out from the ventral aspect of the pharyngeal portion of the foregut during week 4 of embryonic life. The larynx and trachea represent the proximal portions of this endodermal outgrowth. The lung buds arise from the tip of this outgrowth. The laryngeal cartilages and muscles develop from the 4th and 6th pharyngeal arches. Posterior laryngeal clefts might involve the interarytenoid fold, cricoid lamina or the posterior wall of the entire larynx and trachea. Laryngomalacia resulting from abnormal development of laryngeal cartilages causes respiratory stridor in pediatric patients. Laryngeal webs, stenosis and atresia are possibly recanalization defects and are the anatomical basis of congenital high airway obstruction syndrome. Defective neural crest development appears to be the common denominator between obstructive lesions of the upper airway and several craniofacial malformations. The lung bud branches dichotomously and constitutes the bronchial tree. There is a morphogenetic tissue interaction between the endodermal epithelium and the surrounding mesenchyme during lung development. Branching morphogenesis appears to be guided by FGF, SHH, BMP-4, and Gli2, Gli 3 signaling. SFTPB, SFTPC and ABCA3 genes have been found to control surfactant production. Molecular and cellular bases of the development and developmental control mechanisms of the respiratory tract are only beginning to be understood

Pfeiffer type acrocephalosyndactyly with hydrocephalus and tracheomalacia

Pfeiffer syndrome is a rare form of acrocephalosyndactyly It is characterized by craniosynostosis involving one or more sutures resulting in abnormal skull shape and facial dysmorphism. Broad medially deviated distal phalanges of thumbs and big toes with soft tissue syndactyly are typical. Various multisystem anomalies have been reported as infrequent associations of this syndrome. A case of an infant with the typical features along with the uncommon associations of hydrocephalus and tracheomalacia is reported. The literature is briefly reviewed for clinical features, classification, genetic basis and management