Search results for "KAGAMI-OGATA SYNDROME"

showing 3 items of 3 documents

The Coat-Hanger Angle Sign

2016

An infant boy, the second child of healthy parents, was born at 35.5 weeks of gestation by cesarean delivery performed in emergency because of fetal bradycardia and polyhydramnios. At birth his weight was 2770 g (62nd percentile), length 48.3 cm (69th percentile), and head circumference 33.5 cm (64th percentile). Findings of a phys- ical examination showed a broad forehead, a depressed nasal bridge, anteverted nares, a long and protruding philtrum, a high arched palate, retrognathia, joint contractures, and an umbilical hernia. The Apgar score was 6/8 at 1/5 minutes. Because of progressive respiratory distress he required hos- pitalization and noninvasive support ventilation for the first 3…

0301 basic medicineThoraxMaleCoatPediatricsmedicine.medical_specialtyUpd(14)pat030105 genetics & heredityCHA; Kagami-Ogata syndrome; Upd(14)pat; Pediatrics Perinatology and Child HealthKAGAMI-OGATA SYNDROME03 medical and health sciencesmedicineHumansAbnormalities MultipleChromosomes Human Pair 14business.industryKagami-Ogata syndromeInfant NewbornInfantAnatomyThoraxUniparental Disomymedicine.diseaseInfant newbornUniparental disomyPediatrics Perinatology and Child HealthCHAbusinessSign (mathematics)
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Chest Radiograph as Diagnostic Clue in a Floppy Infant

2016

Chromosomes Human Pair 14Male0301 basic medicineThoraxmedicine.medical_specialtymedicine.diagnostic_testbusiness.industryInfant NewbornThoraxUniparental Disomy030105 genetics & heredityRespiration ArtificialInfant newbornKAGAMI-OGATA SYNDROMESurgery03 medical and health sciencesPediatrics Perinatology and Child HealthmedicineHumansMuscle HypotoniaAbnormalities MultipleRadiologyChest radiographFloppy InfantbusinessThe Journal of Pediatrics
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Das Kagami-Ogata-Syndrom: Eine Rippenanomalie als pathognomonisches Korrelat für die klinische Diagnose eines (epi)genetischen Syndroms

2019

ZusammenfassungInnerhalb von 4 Jahren (2014–2017) haben wir 2 Neugeborene mit der genetisch gesicherten Diagnose eines Kagami-Ogata-Syndroms (OMIM #608149) betreut. Pränatal fielen bei beiden Föten ein Polyhydramnion und in einem Fall eine Hepatomegalie auf. Beide Patienten litten postnatal unter einer respiratorischen Insuffizienz und wiesen mit einer Muskelhypotonie, einem vorspringenden Philtrum, vollen Wangen sowie einer breiten Nasenwurzel die typischen phänotypischen Merkmale dieses Imprinting-Defekts auf. Wegweisend für die Diagnosestellung waren die kleiderbügelförmigen Rippen („coat-hanger ribs“) und der glockenförmige Thorax (bell-shaped thorax) im Röntgenbild. Das Kagami-Ogata-Sy…

Gynecologymedicine.medical_specialtyGenetic syndromesbusiness.industryClinical diagnosisMaternity and MidwiferyPediatrics Perinatology and Child HealthmedicineObstetrics and GynecologybusinessKAGAMI-OGATA SYNDROMEZeitschrift für Geburtshilfe und Neonatologie
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