Klippel-Feil syndrome at neonatal age presentation: rare case report

Klippel-Feil syndrome (KFS) is a rare, heterogeneous, congenital disorder of the cervical spine due to failure of segmentation during early gestation. We will present a neonate with KFS who had a classic triad.

A 5-month-old female infant, now in regular orthopedic and pediatric follow-up, was admitted to the neonatal intensive care unit (NICU) immediately after delivery (at the age of 1 hour) with fast breathing and low oxygen saturation. She had a short neck, low hairline, and severely limited neck mobility. A neck X-ray revealed the cervical spine as a single, small bone, and a chest X-ray also showed a left lung field opacity and multiple infiltrations. Abdominal U/S showed left-sided hydronephrosis, and echocardiography revealed the presence of a patent ductus arteriosus (PDA) and an atrial septal defect (ASD). She was treated for neonatal sepsis with antibiotics, oxygen, nasogastric feeding, and showed significant improvement in his distress. After Orthopedics was consulted, she was discharged with regular follow-up appointments to both pediatric (cardiac and renal) and orthopedic for further care.

Different literature mentions various causes of short neck in neonates. KFS is rare and the diagnosis of KFS requires a holistic approach and a high index of suspicion to exclude other causes of a short neck, especially in the absence of a genetic test.

Even though a genetic test is mandatory to confirm the diagnosis and the subtypes, in limited settings like our case, clinical and radiological evidence may help to reach a diagnosis.