Laryngeal atresia, encephalocele, and limb deformities (LEL): a possible new syndrome

Kalache, Karim; Masturzo, Bianca; Scott, R. K.; Rodeck, Charles H.; Chitty, Lyn S.

doi:10.1136/jmg.38.6.420

Cited by 14 publications

(12 citation statements)

References 9 publications

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“…Other findings included pyelectasis, epiglottic hypoplasia, renal dysplasia, polydactyly (seven digits on each hand and six on each foot), and micromelia of all limbs [Chen et al, 2005]. Kalache et al [2001] described a new syndrome entitled laryngeal atresia, encephalocele, and limb deformities (LEL) in a fetus with CHAOS that was diagnosed at 23 weeks gestation. In addition to laryngeal atresia, the fetus had a facial cleft and an anterior encephalocele involving the left orbit, radial and tibial aplasia, two‐fingered hands, and possible agyria [Kalache et al, 2001].…”

Section: Resultsmentioning

confidence: 99%

“…Kalache et al [2001] described a new syndrome entitled laryngeal atresia, encephalocele, and limb deformities (LEL) in a fetus with CHAOS that was diagnosed at 23 weeks gestation. In addition to laryngeal atresia, the fetus had a facial cleft and an anterior encephalocele involving the left orbit, radial and tibial aplasia, two‐fingered hands, and possible agyria [Kalache et al, 2001]. Another fetus terminated at 22 weeks gestational age with CHAOS syndrome and parietal encephalocele, hypoplastic toes, and a horseshoe kidney may also have had LEL syndrome [Machin et al, 1987].…”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Congenital high airway obstruction sequence (CHAOS): A new case and a review of phenotypic features

Sanford

Saadai

Lee

et al. 2012

American J of Med Genetics Pt A

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Congenital high airway obstruction sequence (CHAOS) has traditionally been defined as airway obstruction with ultrasound evidence of distal airway dilatation, expanded lungs, ascites, and hydrops. It can result from aplasia or intrinsic obstruction to the formation of the upper airway (larynx and trachea) during development. CHAOS is commonly sporadic and there is no known causative gene. In this comprehensive review on CHAOS, we examined 117 reported cases of this sequence and describe a new case. Malformations in addition to high airway obstruction were present in 64/118 (54.2%) of patients. The most frequent anomalies affected the digits and musculoskeletal system, but there was no distinct phenotype or characteristic dysmorphic appearance associated with CHAOS. The ex utero intrapartum therapy (EXIT) procedure has greatly improved survival for these patients and 36/118 (30.5%) were alive at the time of reporting. Only 2 patients out of 12 who underwent laryngotracheoplasty were tracheostomy-free at the time of their reporting. Six out of 13 were able to produce some speech. Our review provides valuable information on associated anomalies and survival in this complex sequence. The phenotypic variability seen in this review of patients makes it likely that the causes of CHAOS are genetically heterogeneous.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Congenital high airway obstruction sequence (CHAOS): A new case and a review of phenotypic features

Sanford

Saadai

Lee

et al. 2012

American J of Med Genetics Pt A

View full text Add to dashboard Cite

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“…Machin et al () reported a fetus that presented an encephalocele and CCAM associated to laryngeal atresia, flexion deformities of the wrist and hips, bilateral syndactyly and camptodactyly, and horseshoe kidney. It is noteworthy that Kalache et al () described a fetus that also had an encephalocele associated with laryngeal atresia and enlarged echogenic lungs. The child had a large facial cleft, radial and bilateral tibial aplasia, absence of metacarpals or metatarsals, and toes syndactyly.…”

Section: Discussionmentioning

confidence: 99%

Nasoethmoidal meningocele in a child presenting bilateral congenital cystic adenomatoid malformation: Evidence for a new entity or consequence of gestational exposures?

Rosa

Silveira

Tsugami³

et al. 2016

Birth Defects Research

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To our knowledge, there is only one case reported in the literature showing the same association between a nasoethmoidal meningocele and CCAM. Thus, the malformations observed in our patient may be related to the gestational exposures. Also, we cannot rule out that the patient may present the same condition characterized by a cephalocele and CCAM described by some authors, or even an undescribed entity, because some hallmark features, such as laryngeal atresia and limb defects, were not observed in our case. Further reports will be very important to better understand the associations described in our study.

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“…24,25 A familial tendency has been reported for partial laryngeal atresia (laryngeal web), so autosomal dominant transmission has been suggested; however, complete atresia is usually sporadic. 13,17,24 Some authors reported laryngeal atresia that was associated with partial trisomy 9 and 16, resulting in maternal translocation. 25 The reported prenatally diagnosed cases in the English literature are summarized in Table 1.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Isolated Laryngeal Atresia

Güven

Akturk

et al. 2007

Journal of Ultrasound in Medicine

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Laryngeal atresia, encephalocele, and limb deformities (LEL): a possible new syndrome

Cited by 14 publications

References 9 publications

Congenital high airway obstruction sequence (CHAOS): A new case and a review of phenotypic features

Congenital high airway obstruction sequence (CHAOS): A new case and a review of phenotypic features

Nasoethmoidal meningocele in a child presenting bilateral congenital cystic adenomatoid malformation: Evidence for a new entity or consequence of gestational exposures?

Prenatal Diagnosis of Isolated Laryngeal Atresia

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