Agnathia-otocephaly complex: a case report and a literature review on recurrence risk
| Autor: | Lievelijn Vanhees, Sabine Fransis, Ellen Denayer, Marie-Rose Van Hoestenberghe, Anke Thaens |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Otocephaly Embryology Pediatrics medicine.medical_specialty Agnathia 030105 genetics & heredity Recurrence risk 03 medical and health sciences medicine Foetal anomaly PRENATAL-DIAGNOSIS foetal anomaly Science & Technology business.industry parental counselling Obstetrics & Gynecology Obstetrics and Gynecology medicine.disease 030104 developmental biology agnathia-otocephaly complex Pediatrics Perinatology and Child Health INFANT PRRX1 business Life Sciences & Biomedicine recurrence risk OTX2 |
| Zdroj: | Case Reports in Perinatal Medicine. 9 |
| ISSN: | 2192-8959 2192-8932 |
| DOI: | 10.1515/crpm-2020-0041 |
| Popis: | Objectives Agnathia-otocephaly complex (AOC) is an extremely rare, lethal disorder causing obstruction of the upper airway at birth due to absence of the mandible and hypoplasia of the oral cavity. Implications for future pregnancies need to be elucidated by parental counselling, as recurrence of AOC or associated comorbidities are possible. Very little is known on this subject, because of the rarity of the disorder and scarce data on genetic causes of this complex. The objectives of this study were to determine the recurrence risk and mode of inheritance for AOC based on current literature. Contents Recurrence of AOC or associated comorbidities within the family of an index case was reported in eight articles, describing 7 and 27 relatives, respectively. There were eight AOC cases in which the genetic cause was known. Mutations in 2 genes, orthodenticle homeobox 2 (OTX2) and paired related homeobox 1 (PRRX1), have been described. Due to its mainly sporadic appearance, recurrence risk is low. Counselling on recurrence risk is difficult, because of a broad heterogeneity with complex inheritance patterns and variability in phenotypic expression. Outlook Chromosomal analysis and exome sequencing in children with AOC will help unravel current aetiological uncertainties and could help in further reproductive decisions. We emphasize the need for timely diagnosis through ultrasound, providing parents with the opportunity to receive multidisciplinary counselling, giving them the chance to contemplate their management decisions. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|