Klippel–Feil Syndrome and Associated Congenital Anomalies in a Neonate

A female newborn, born at 37+ 2 weeks, out of nonconsanguineous marriage, with a birth weight of 2.5 kg, was referred to us, immediately after birth, due to birth asphyxia and difficulty in breathing. There were no associated abnormal body movements. Mother was immunized, with no antenatal complications. The baby was the first in birth order, delivered through Cesarian section, due to prolonged labor. No significant family history was reported. On examination, the newborn was lethargic, with respiratory distress and cyanosis in room air, but maintained Spo2–92% on continuous positive airway pressure (CPAP), heart rate 130/minute, respiratory rate 70/minute, capillary refill time <3 seconds, blood pressure 72/50 mm Hg, and random blood sugar 124 mg/dl. He had a head circumference of 33 cm, length of 42.5 cm (<3 SD), a chest circumference of 29.5 cm, and the ratio of upper to lower segment was 1.2:1. Physical examination revealed a short neck, low posterior hairline, and restricted neck mobility [Figures 1 and 2]. The cranium was normal with open, level anterior fontanelle, and a kyphoscoliotic deformity of the cervicodorsal spine. There were crepitations over bilateral lung fields and a systolic murmur in the third and fourth intercostal spaces. The baby was hypotonic with obtunded neonatal reflexes, consistent with Stage I of hypoxic-ischemic encephalopathy. Abdominal examination was unremarkable.Figure 1: Image of newborn showing (a) Short neck, (b) Low posterior hairlineFigure 2: X-ray of the newborn (a) Lateral view showing fusion of entire cervical vertebrae and upper thoracic vertebrae, (b) Anteroposterior view showing fusion of the cervical vertebrae and upper dorsal vertebrae with reduced intervertebral disc spaces in the affected segmentsInvestigations showed hemoglobin 16 g/dl, total leukocyte count 19,500/mm3, with neutrophils 63%, platelets 2.10/mm3, C-reactive protein 1.7 mg/L, and urea/creatinine 20/0.8 mg/dl, and 24 6 mg/dl on Day 1 and 5, respectively, bilirubin (total/conjugated) 4.5 0.6 mg/dl and 6/0.4 mg/dl on Day 1 and 5, respectively. X-ray neck revealed fusion of entire cervical vertebrae and upper thoracic vertebrae [Figures 2a, b and 3a].Contrast-enhanced magnetic resonance imaging brain and whole spine done on Day 9 of life revealed congenital fusion of the entire cervical and few of the upper dorsal vertebrae (from T1 to T6 thoracic vertebrae) leading to severe shortening of the neck. There was an associated elevation of the left scapula, with no demonstrable ossified omovertebral bar – thus consistent with Sprengel deformity of the left shoulder, mildly thinned out cervical and upper dorsal spinal cord [Figure 3a-d]. The brain parenchyma appeared normal except for mild asymmetry in the left cerebral hemisphere. Ultrasound of the abdomen revealed no significant abnormality. A two-dimensional echocardiogram revealed small anterior muscular ventricular septal defect, small patent ductus arteriosus, and severe neonatal pulmonary hypertension with a pressure gradient of 55 mm Hg.Figure 3: Contrast-enhanced magnetic resonance imaging of brain and spine (a) T2 sagittal section of the whole spine: The vertebral bodies from C1-D6 levels are not distinctively visualized, suggestive of long-segment fused vertebrae, (b) T2 sagittal section showing thinning of the brainstem, medulla, and the proximal cervical spinal cord, (c) T2 coronal sections of the brain, neck and upper thorax: Arrow showing elevation of the left scapula and the visualized humeral head, suggestive of sprengel deformity, (d) T2 sagittal section of the brain and cervical spine: Arrow showing a long segment fused cervical vertebraeHearing assessment on Day 10 of life by otoacoustic emissions was normal. Orthopedic consultation confirmed the possibility of Klippel–Feil Syndrome with a fusion of the entire cervical and a few of the upper thoracic vertebrae, severe kyphoscoliotic deformity of the cervicodorsal spine, and associated elevation of left scapula. The patient was managed symptomatically Respiratory distress decreased after 2 days. Oxygen was tapered and stopped after Day 6 of life. Tobramycin eye drops were started for ophthalmia neonatorum. The patient was discharged after 13 days. Parents were advised to take neurosurgery opinion. Klippel–Feil syndrome is a congenital disorder characterized by improper segmentation of cervical vertebrae, with an estimated incidence of around 1 in 42,000 live births.[1] Mutations in various genes such as GDF6, GDF3, and MEOX1 may be responsible for this condition.[2] The classic triad of short neck, low posterior hairline, and limited cervical range of motion may be seen in only half of the individuals with this disorder.[1-3] The study of 31 individuals with KFS found all the three parameters to be present in only 9.7%.[4] The disorder is classified into three types as per the Samartzis classification[5] where Type I involves a single congenitally fused segment, Type II involves multiple noncontiguous, fused segments and Type III consists of multiple, contiguous, congenitally fused segments, most common being Type II. Individuals with Type III KFS are most prone to develop radiculopathic or myelopathic symptoms.[1] Our patient demonstrated Type III. Half of the patients exhibit scoliosis. Facial dysmorphism, microcephaly, torticollis, and congenital cardiac and genitourinary tract abnormalities may be associated with KFS.[1-3] Our patient had scoliosis, Sprengel deformity, and cardiac structural abnormalities. Treatment for KFS is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord and to correct scoliosis.[1] Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given her consent for images and other clinical information to be reported in the journal. The guardian understands that her name and initials will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.