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Diaphragmatic hernia, hydrocephalus, and cardiac malformations in four pregnancies of a non-consanguineous couple
  1. *Division of Medical Genetics, Geneva University Hospital, 1 rue Michel-Servet, CH-1211 Geneva 4, Switzerland
  2. †Cytogenetics Laboratory, Central Hospital, Chambery, France
  3. ‡Department of Pathology, Geneva University Hospital, Switzerland
  4. §Fetal Medicine Unit, Department of Obstetrics and Gynecology, Geneva University Hospital, Switzerland
  1. Dr DeLozier-Blanchet, delozier{at}

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Editor—Diaphragmatic hernia occurs with an incidence of 1/4000-1/5000 newborns.1 2 About half of the cases occur as isolated malformations; anomalies of the central nervous system are well known associated defects, as are midline malformations such as cleft lip and palate and heart defects.1 2 Among syndromic causes of diaphragmatic hernia are numerous chromosomal imbalances (4p deletion, trisomy 18, i(12p), and some single gene defects such as the autosomal recessive Fryns syndrome3and an X linked form, the thoracicoabdominal syndrome.4 5Fryns syndrome is probably the most frequent non-chromosomal malformation syndrome associated with diaphragmatic hernia,3 6 but this disorder presents with typical dysmorphic features, and both heart and CNS malformations are infrequent in Fryns syndrome.

The family reported here, along with several other published reports, combining CNS, heart, and diaphragmatic defects, may help to delineate a distinct syndromic form of diaphragmatic hernia.

Healthy, non-consanguineous parents, of French origin and with unremarkable family histories, had six unsuccessful pregnancies. Two resulted in first trimester spontaneous abortion. The other four led to pregnancy terminations between 15 and 23 weeks' gestation because of malformations detected on ultrasound (table 1). Left diaphragmatic hernia was the earliest observed and most constant feature. Cardiac malformations, present in all cases, were of varying types: VSD/ASD was seen twice and hypoplastic left …

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