“Coat Hanger” Deformity of the Ribs

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Anteroposterior radiograph of the chest showing coat hanger deformity of the ribs Image Source: The New England Journal of Medicine©

A baby boy was born at 28 weeks of gestation with respiratory distress. The neonate was intubated immediately, and surfactant was administered through the endotracheal tube.
Premature birth was attributable to preeclampsia due to which the baby was delivered via emergency cesarean section.

At 22 weeks of gestation, an antenatal ultrasound had shown polyhydramnios and omphalocele (abdominal organs outside the body in a sac due to a defect in the abdominal wall). Therefore, a giant omphalocele was noticed on the physical examination after birth along with webbed neck, and deformity of both hands.

Chest Xray on the first day of life showed a narrow rib cage with crowding of ribs in a “coat hanger” appearance.

A diagnosis of paternal uniparental disomy 14 was suspected.

The diagnosis was suspected based on antenatal studies, physical examination, and clinical manifestations.

Diagnosis of paternal uniparental disomy 14 was confirmed on genetic testing.

Unfortunately, the infant died after being on mechanical ventilation for 4 weeks. The cause of death was ruptured omphalocele and septic shock.

Uniparental disomy is when both copies of a gene are inherited from a single parent; when both copies are inherited from the father, it is called Paternal Uniparental Disomy. In the case in the discussion here, the baby inherited both copies of chromosome number 14 from the father, hence the name.

Paternal uniparental disomy 14 (patUPD14)is an extremely rare disorder with very few cases in the literature. Few, comparatively more common, heard examples of UPD are Prader-Willi (matUPD15), Beckwith-Wiedemann syndrome (patUPD11), and Russell-Silver syndrome (matUPD7).

PatUPD14 has been observed to have a distinctive clinical picture in almost all the reported clinical cases to date. Multiple hernias/omphalocele, abnormal facies, premature birth, skeletal dysplasia, respiratory insufficient at birth, history of polyhydramnios in pregnancy, and the characteristic “coat hanger” deformity of the ribs.

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Lateral radiograph showing large omphalocele
Image Source: Journal of Perinatology

The presence of ‘coat hanger’ rib deformity and omphalocele are the hallmarks of  patUPD14, which help to differentiate it from other causes of small thorax and skeletal dysplasias.

Prognosis of paternal uniparental disomy 14 is quite poor due to respiratory insufficiency, and neurodevelopmental retardation. However, it is imperative to give genetic counseling to parents.

References

Faeq Al-Mudares, M. a. (2020, March 26). Coat Hanger” Appearance of the Ribs. Retrieved from The New England Journal of Medicine: https://www.nejm.org/doi/full/10.1056/NEJMicm1910897

Sargar, K., Herman, T. & Siegel, M. Paternal uniparental disomy of chromosome 14. J Perinatol 34, 723–725 (2014). https://doi.org/10.1038/jp.2014.24

Ogata, T., Kagami, M. Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region. J Hum Genet 61, 87–94 (2016). https://doi.org/10.1038/jhg.2015.113

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Dr. Arsia Parekh
Dr. Arsia Hanif has been a meritorious Healthcare professional with a proven track record throughout her academic life securing first position in her MCAT examination and then, in 2017, she successfully completed her Bachelors of Medicine and Surgery from Dow University of Health Sciences. She has had the opportunity to apply her theoretical knowledge to the real-life scenarios, as a House Officer (HO) serving at Civil Hospital. Whilst working at the Civil Hospital, she discovered that nothing satisfies her more than helping other humans in need and since then has made a commitment to implement her expertise in the field of medicine to cure the sick and regain the state of health and well-being. Being a Doctor is exactly what you’d think it’s like. She is the colleague at work that everyone wants to know but nobody wants to be. If you want to get something done, you approach her – everyone knows that! She is currently studying with Medical Council of Canada and aspires to be a leading Neurologist someday. Alongside, she has taken up medical writing to exercise her skills of delivering comprehensible version of the otherwise difficult medical literature. Her breaks comprise either of swimming, volunteering services at a Medical Camp or spending time with family.

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