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X ray of newborn had coat hanger appearance- Rare case of Wang syndrome reported

Dr. Kamal Kant KohliWritten by Dr. Kamal Kant Kohli Published On 2020-04-08T09:35:53+05:30  |  Updated On 8 April 2020 4:05 AM GMT
X ray of newborn had coat hanger appearance- Rare case of Wang syndrome reported
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Dr Faeq Al-Mudares at Texas Children's Hospital, Houston, Texas and colleagues have reported an unusual case of Paternal uniparental disomy in a neonate whose ribs appeared as coat hanger in X-ray chest.The case has been published in the New England journal of Medicine.Paternal uniparental disomy (UPD) of chromosome 14 (Wang syndrome) is a rare disorder due to abnormal chromosome...

Dr Faeq Al-Mudares at Texas Children's Hospital, Houston, Texas and colleagues have reported an unusual case of Paternal uniparental disomy in a neonate whose ribs appeared as coat hanger in X-ray chest.The case has been published in the New England journal of Medicine.

Paternal uniparental disomy (UPD) of chromosome 14 (Wang syndrome) is a rare disorder due to abnormal chromosome inheritance; both chromosomes 14s are inherited from the father with no contribution from the mother. It is characterized by facial abnormalities, abdominal wall defects, placentomegaly, poly- hydramnios, and a small bell-shaped thorax with "coat- hanger" appearance of the ribs constituting its prominent pathognomonic feature.

In the instant case ,respiratory distress developed in a male neonate immediately after birth at 28 weeks of gestation. The pregnancy had been complicated by preeclampsia, and delivery was performed by emergency cesarean section. The infant underwent intubation, and surfactant was administered through the endotracheal tube. Physical examination showed a giant omphalocele, webbed neck, and deformity of both hands. Antenatal ultrasonography at 22 weeks of gestation had shown the presence of an omphalocele and polyhydramnios. Chest radiography on the first day of life showed a narrowing of the rib cage with crowding of the ribs in a "coat hanger" appearance. On the basis of antenatal studies and the clinical presentation, a diagnosis of paternal uniparental disomy 14 was suspected. This disorder is caused by the inheritance of two copies of chromosome 14 from the father, resulting in a distinctive phenotype that includes the characteristic "coat hanger" deformity of the ribs. Genetic testing confirmed the diagnosis. After receiving ventilator support for 4 weeks, the infant died from a ruptured omphalocele and septic shock.

For further reference log on to:

DOI: 10.1056/NEJMicm1910897

New England journal of Medicine coat hanger appearance Wang syndrome Paternal uniparental disomy 
Source : New England journal of Medicine
Dr. Kamal Kant Kohli
Dr. Kamal Kant Kohli

    Dr Kamal Kant Kohli-MBBS, DTCD- a chest specialist with more than 30 years of practice and a flair for writing clinical articles, Dr Kamal Kant Kohli joined Medical Dialogues as an Editor-in-Chief for the Speciality Medical Dialogues section. Besides writing articles, as an editor, he proofreads and verifies all the medical content published on Medical Dialogues including those coming from journals, studies,medical conferences,guidelines etc. Before Joining Medical Dialogues, he has served at important positions in the medical industry in India including as the Hony. Secretary of the Delhi Medical Association as well as the chairman of Anti-Quackery Committee in Delhi and worked with other Medical Councils in India. Email: editorial@medicaldialogues.in. Contact no. 011-43720751

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