Prenatal diagnosis of Kagami‐Ogata syndrome
| Autor: | Montserrat Milà Recasens, Montserrat Izquierdo Renau, Josep Maria Martínez Crespo, Joan Sabrià Bach, Cristina Molinet Coll, Ana Alarcón Allen, Olga Gómez Del Rincón, David Monk |
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| Rok vydání: | 2020 |
| Předmět: |
Thorax
Polyhydramnios Pediatrics medicine.medical_specialty Respiratory distress business.industry Prenatal diagnosis 030204 cardiovascular system & hematology medicine.disease 030218 nuclear medicine & medical imaging Protuberant abdomen Abdominal wall 03 medical and health sciences 0302 clinical medicine medicine.anatomical_structure Intellectual disability medicine Radiology Nuclear Medicine and imaging business Congenital disorder |
| Zdroj: | Journal of Clinical Ultrasound. 49:498-501 |
| ISSN: | 1097-0096 0091-2751 |
| Popis: | Kagami-Ogata syndrome (KOS14) is a rare congenital disorder associated with defective genomic imprinting of the chromosome 14q32 domain. Typical features include polyhydramnios, small and bell-shaped thorax, coat-hanger ribs, dysmorphic facial features, abdominal wall defects, placentomegaly, severe postnatal respiratory distress and intellectual disability. To the best of our knowledge, this may be the first case where ultrasound findings such as: severe polyhydramnios, a small bell- shaped thorax, a protuberant abdomen and characteristic dysmorphic face prompted directed family interrogation finally leading to the prenatal diagnosis of KOS14. |
| Databáze: | OpenAIRE |
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