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Laryngeal atresia, encephalocele, and limb deformities (LEL): a possible new syndrome
  1. Karim D Kalachea,
  2. Bianca Masturzoa,
  3. Rosemary J Scottb,
  4. Charles H Rodecka,
  5. Lyn S Chittya,c
  1. aFetal Medicine Unit, Department of Obstetrics and Gynaecology, Royal Free and University College London Medical School, University College London, London, UK, bDepartment of Histopathology, Royal Free and University College London Medical School, University College London, London, UK, cInstitute of Child Health, Royal Free and University College London Medical School, University College London, London, UK
  1. Dr Kalache, Campus Charité Mitte, Fetal Medicine Unit/Department of Obstetrics and Gynaecology, Schumannstrasse 20/21, D-10117 Berlin, Germanykarim.kalache{at}charite.de

https://doi.org/10.1136/jmg.38.6.420

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    Editor—In 1987, Machin et al 1 reported a case of laryngeal atresia in association with an asymmetrical parietal encephalocele and limbs anomalies. Other anomalies included a horseshoe kidney and immature, low set ears. We now report a similar case and discuss possible aetiologies and the differential diagnosis.

    Case report

    This was the second pregnancy of a non-consanguineous, healthy couple with an unremarkable family history; the mother was 26 years old. Ultrasonoraphic findings at 23 weeks' gestation were gross fetal ascites and enlarged echogenic lungs subsequently found to be the result of laryngeal atresia (fig 1). There was a large facial cleft with an anterior encephalocele involving the left orbit (fig 1). There were also flexion deformities at the wrists and hips suggesting bilateral radial and tibial aplasia, respectively (fig 1). In view of the serious nature of the anomalies, the parents requested a termination of the pregnancy. Asystole was induced by intracardiac injection of potassium chloride and labour was induced. Analysis of fetal blood showed a normal karyotype (46,XX).

    Figure 1

    General body view with the main ultrasonographic features: (1) encephalocele, (2) laryngeal atresia, and (3) limb anomalies. Note the dilated trachea resulting from laryngeal atresia. The heart is compressed by the bright and distended lungs (Lu).

    The fetus weighed 615 g and was hydropic (fig 1). A detailed necropsy …

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