Kashmiri Infant’s Survival Story Sheds Light On Little-Known Syndrome

It all began with a regular ultrasound scan on a 28-year-old pregnant woman in her second trimester performed by Dr Berkheez Shabir, Gynaecologist, Medicare Super Specialty Hospital in Kaksarai. But the scan showed some worrying signals with the unborn child. The long bones seemed unnaturally short, there were additional digits on the hands, the chest was strangely small and there were indicators of a congenital heart issue.

“The findings made the gynaecologist and the radiologist suspicious of a rare disease of the skeleton. The case was referred immediately to me,” said Dr Zahoor Hussain Daraz, Consultant Paediatrician and in-charge of the ICU of the hospital. He worked closely with them to chalk out the following steps.

Genetic counseling was provided in detail to the parents after the diagnosis. Says the senior paediatrician, “Ellis-van Creveld syndrome is an extremely rare hereditary disease caused by certain gene mutations. It is characterized by a triad of small stature, additional digits (most often on the hands) and abnormalities of the heart and nails.” About half of the affected children have major heart defects, including a 'common atrium' and a 'ventricular septal defect' (a hole between the lower chambers of the heart), which are particularly common. The syndrome affects the skeleton, teeth and sometimes the hair and facial features.

Added Dr Daraz, “It is inherited in an autosomal recessive manner, meaning both parents must contain the gene for their kid to be affected. However, in this case, there was no prior family history or apparent indicators of the illness.” The doctors warned the parents of the serious health risks involved but based on their strong religious convictions, they elected to go through with the pregnancy. The medical staff, aware of the high danger of the case, offered constant monitoring and specialist prenatal care up to birth.

The infant was born by C-section at 37 weeks gestation. The newborn presented with several of the classic indications of Ellis–van Creveld syndrome (EVC). “She had arms and legs that were abnormally short, six fingers on each hand (a disease called polydactyly), thin and deformed nails, sparse hair on the head, a markedly sunken nasal bridge, and slight facial changes,” recalled Dr Daraz. But the most worrisome signals were of heart and lung trouble.

Normal oxygen saturation in a healthy infant is usually above 90 per cent. But this baby was having episodes of low oxygen levels, which was a disturbing indicator that needed quick therapy. Soon, Dr Zahoor and his team found what was causing it: severe pulmonary hypertension, dangerously high blood pressure in the arteries of the lungs. In newborns with EVC, this consequence is particularly severe because of the tremendous stress it puts on the heart and lungs.

The baby was transferred to the neonatal critical care unit, where a careful cocktail of drugs was utilized to stabilize her health. They included medications to relieve pressure in the lungs, to control fluid levels and to promote heart function. “The first 12 months of life are particularly important for infants with this condition as they are at higher risk for respiratory and cardiac problems,” Dr Daraz told ETV Bharat.

The baby weighs 6 kg and is stable with constant medical supervision while waiting for cardiac surgery to fix the problems. The hospital staff remains involved, providing comprehensive care for growth and development, and monitoring for risk of infection. This rare case from Kashmir highlights the challenges faced by families and health care providers in managing complex genetic disorders, and the importance of teamwork in improving outcomes for even the most vulnerable patients.

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