Laryngeal cleft: Report of eight patients and a review of the literature

Tyler, Denise; Opitz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320210110

Cited by 46 publications

(24 citation statements)

References 47 publications

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“…Although tracheal agenesis and laryngotracheo-oesophageal clefts are both rare forms of tracheo-oesophageal malformations in humans they are well recognised to occur with VACTERL anomalies [10,11]. The similarities between the anomalies induced in mice by adriamycin and those seen in humans suggest that this model may provide valuable insights into how they develop.…”

Section: Discussionmentioning

confidence: 89%

Adriamycin mouse model: a variable but reproducible model of tracheo-oesophageal malformations

et al. 2007

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A spectrum of tracheo-oesophageal malformations is seen in humans: oesophageal atresia, tracheal agenesis and laryngotracheo-oesophageal clefts. They are thought to share a common but unknown aetiology. These birth defects are frequently associated with other VACTERL anomalies. The adriamycin rat model (ARM) has proved to be a valuable model of the VACTERL anomalies, illustrating the dysmorphogenesis of oesophageal atresia and tracheal agenesis. As organogenesis relies on temporaspatially co-ordinated signalling systems, the next step would be to study the molecular pathogenesis of tracheo-oesophageal malformations. However, the mouse is the foremost mammal studied by developmental biologists, offering an expanding wealth of knowledge and scientific research techniques with which to investigate these anomalies. A limited dose response analysis of the teratogenicity of adriamycin in the mouse has identified a dose and timing of injections that produced tracheo-oesophageal malformations and other VACTERL anomalies. A clear account of the types and variability of the tracheo-oesophageal malformations produced by this dose is essential in order to be able to plan and interpret any future investigations of early gestation fetuses. CBA/Ca mice were accurately time-mated (n = 10). Nine dams received intraperitoneal injections of adriamycin (6 mg/kg) and one control dam received saline injections, on days 7 and 8. Fetuses were harvested on day 18, near term. Tracheo-oesophageal malformations were examined by dissecting microscope and serial transverse sections. Results are reported in the standard teratological manner as mean percentage per litter (+/-SEM). The resorption rate of the adriamycin treated fetuses was 50.4%. There were 29 adriamycin treated fetuses for inspection. Tracheo-oesophageal malformations were found in 29.2% (+/-10.3), affecting five out of nine litters. Oesophageal atresia occurred in 15.6% (+/-8.1), laryngotracheo-oesophageal cleft in 10.4% (+/-7) and tracheal agenesis in 3.1% (+/-3.1). All of these malformations occurred with a tracheo-oesophageal fistula. Unlike the ARM, the AMM can produce fetuses with complete laryngotracheo-oesophageal cleft as well as oesophageal atresia or tracheal agenesis. Their occurrence was found to be reproducible but variable. These are important considerations when planning and interpreting experiments using this model.

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Section: Discussionmentioning

confidence: 89%

Adriamycin mouse model: a variable but reproducible model of tracheo-oesophageal malformations

et al. 2007

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“…Interventions used to manage lax epiglottis after follow up includes supraglottoplasty, epiglottectomy that yielded good results. Attempts were reported to repair the defect by trimming the edges of the epiglottis with a CO 2 laser and then suturing the two cartilaginous halves together but eventually epiglottectomy was done and resulted in a good outcome after the patient presented with symptoms of airway obstruction [4,[15][16][17].…”

Section: Discussionmentioning

confidence: 99%

Congenital Bilateral Saccular Cysts and Bifid Epiglottis: Presentation and Management

Arif

Al-Khatib

Daghistani

et al. 2015

Indian J Otolaryngol Head Neck Surg

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Saccular disorders are rare representing only 1.5 % of all laryngeal anomalies. Bifid epiglottis is also an extremely rare congenital anomaly that usually occurs in a syndromic picture in association with other anomalies such as polydactyly, cleft palate and micrognathia, which are seen in Pallister-Hall Syndrome and rarely with other syndromes. We report a case of bilateral saccular cysts and bifid epiglottis in a full term neonate presenting with stridor. The patient's other congenital anomalies included microretrognathia, short neck, polydactyly of four extremities and hypospadias. The patient underwent staged endoscopic microsurgical marsupialization of both cysts and endoscopic repair of the bifid epiglottis.

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“…The congenital anomalies most commonly associated with LTE clefts are OA with TOF (20%), lung abnormali ties (15-20%), cleft lip and/or palate and cardiac anoma lies [5][6][7], The constellation of defects seen in our cohort indicates a high incidence of congenital heart anomalies (6 patients), genitourinary abnormalities (5 patients) and lung cysts (7 patients) in infants with LTE clefts type 2 to type 4. The embryological pathogenesis of LTE clefts would lead one to suspect a high incidence of occurrence of OA and TOF in these patients and this has been sub stantiated in our series.…”

Section: Discussionmentioning

confidence: 99%

“…The reported mortality rate for each type of cleft has been 43% for type 1 and 93% for type 2 LTE cleft and a 100% for other types of cleft [5], Sixty-seven percent of patients with LTE clefts who have died were found to have other associated congenital malformations [7], The defect is amenable to successful surgical treatment in 50% of the reported minor laryngeal clefts [5][6][7], The mortality in our cohort was 86%. The high mortality rate was due to the severity of LTE cleft (type 3 and 4) and the presence of multisystem congenital anomalies.…”

Section: Laryngotracheoesophageal Cleftsmentioning

confidence: 99%

“…karger, ch aspiration and partial airway obstruction from birth. Oth er common features are stridor, episodes of choking and cyanosis precipitated by feeding, a weak, hoarse, abnor mal cry and recurrent respiratory infections and chemical pneumonitis secondary to aspiration or severe gastroeso phageal reflux [5][6][7], The majority of patients with LTE clefts have associated congenital malformations. The common associated anomalies are esophageal atresia (OA) with or without tracheoesophageal fistula (TOF), gastroesophageal reflux, cleft lip and palate, congenital heart defects, tracheobronchial defects and genitourinary abnormalities, in particular hypospadias [3][4][5][6][7], LTE cleft is known to occur in Opitz-Frias, Pallister-Hall and VACTER syndromes [6], The diagnosis of LTE cleft is difficult.…”

Section: Introductionmentioning

confidence: 99%

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Prenatal Diagnosis of Laryngotracheoesophageal Clefts

Samuel¹,

Burge²,

Griffiths³

1997

Fetal Diagn Ther

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Seven infants with laryngotracheoesophageal (LTE) clefts who had abnormal prenatal fetal sonographs were reviewed retrospectively to evaluate the antenatal scan characteristics, clinical features at presentation and associated malformations. The prenatal scans demonstrated polyhydramnios, lung cysts and an absent stomach in all. The mode of delivery was by emergency lower segment cesarean section for fetal distress, in all 7 babies. The mean gestational age at delivery was 36 weeks (range 33–38) and intrauterine growth retardation was seen in 4 neonates. A combination of endoscopy, surgery and autopsy confirmed LTE cleft type 4 in 5 patients, type 3 and type 2 in a patient each. Esophageal atresia and lower pouch tracheoesophageal fistula was present in all. Agastria was seen in 4 and microgastria in 3 children. Lung abnormalities were seen in all 7 infants and they included congenital lung cysts (4 patients), absent lung lobulation (3 patients), bronchogenic cysts (2 patients), cystic adenomatoid malformation (1 patient) and bronchoesophageal fistula (1 patient). The mortality was 86% and the sole survivor had a LTE cleft type 2 which was successfully repaired. The diagnosis of LTE cleft must be considered if a prenatal scan demonstrates the triad of: (1) polyhydramnios; (2) absent stomach, and (3) presence of lung cyst. This should lead to a detailed postnatal evaluation and early diagnosis of this uncommon anomaly resulting in early counseling and suitable management.

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Laryngeal cleft: Report of eight patients and a review of the literature

Cited by 46 publications

References 47 publications

Adriamycin mouse model: a variable but reproducible model of tracheo-oesophageal malformations

Adriamycin mouse model: a variable but reproducible model of tracheo-oesophageal malformations

Congenital Bilateral Saccular Cysts and Bifid Epiglottis: Presentation and Management

Prenatal Diagnosis of Laryngotracheoesophageal Clefts

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