KLIPPEL-FEIL SYNDROME KLIPPEL -FEIL SYNDROME/CERVICAL VERTEBRAL FUSION/CONGENITAL CERVICAL STENOSIS. IS A RARE SKELETAL DISORDER PRIMARILY CHARACTERISED BY ABNORMAL UNION OR FUSION OF TWO OR MORE CERVICAL VERTEBRAE. THE AFFECTED INDIVIDUALS HAVE *ABNORMALLY SHORT NECK. *RESTRICTED MOVEMENT OF HEAD AND NECK. *LOW POSTERIOR HAIRLINE AT THE BACK OF THE HEAD. KFS IS ASSOCIATED WITH OTHER PHYSICAL ABNORMALITIES LIKE *ABNORMAL CURVATURE OF SPINE/SCOLIOSIS. *SPINA BIFIDA OCCULTA. *RAISED SCAPULA/SPRENGEL'S DEFORMITY. *ABSENT RIBS/PRESENCE OF CERVICAL RIB. *SKELETAL MALFORMATIONS OF EAR,NOSE,MOUTH AND LARYNX CAUSING HEARING IMPAIRMENT AMD CLEFT PALATE. *CRANIOFACIAL MALFORMATIONS. *ANOMALIES OF URINARY TRACT. *STRUCTURAL ABNORMALITIES OF THE HEART. *NEUROLOGICAL COMPLICATIONS. TYPES OF KFS KFS I CHARACTERISED BY EXTENSIVE FUSION OF CERVICAL VERTEBRAE AND UPPER BACK. AUTOSOMAL RECESSIVE. KFS II CHARACTERISED BY FUSION OF ONE OR TWO CERVICAL/THORACIC VERTEBRAE. AUTOSOMAL DOMINANT. KFS III CHARACTERISED BY FUSION OF CERVICAL VERTEBRAE AS WELL AS THORACIC OR LUMBAR VERTEBRAE. AUTOSOMAL RECESSIVE. KFS IS ASSOCIATED WITH CLASSIC TRIAD OF SYMPTOMS. *ABNORMALLY SHORT NECK. *RESTRICTED MOVEMENTS OF HEAD AMD NECK. *LOW POSTERIOR HAIRLINE. THE CAUSE OF KFS IS A RESULT OF FAILURE OF PROPER SEGMENTATION OF EMBRYONIC TISSUE THAT NORMALLY DEVELOPS INTO VERTEBRAE. PRESENT CASE HISTORY. CONSANGUINEOUS COUPLE. THIRD GRAVIDA,TWO NORMAL DELIVERIES,HEALTHY NORMAL CHILDREN. DELIVERED THIS GIRLBABY WITH SHORT NECK,LOW POSTERIOR HAIRLINE AMD RESTRICTED MOVEMENTS OF HEAD AND NECK. PATIENT DELIVERED HER FOURTH GIRL BABY WITH SIMILAR FEATURES TUBECTOMY WAS DONE.THIS DELIVERY TOOK PLACE TWELVE YEARS BACK.TIFFA SCAN WAS NOT DONE FREQUENTLY. THIS PATIENT ONLY CAME FOR DELIVERY. TREATMENT OF KFS IS DIRECTED TOWARDS THE SPECIFIC SYMPTOMS AND ASSOCIATED PHYSICAL FINDINGS. TREATMENT REQUIRES COORDINATED EFFORTS OF PAEDIATRICIANS,SURGEONS,PHYSICIANS,ORTHOPEDICIANS,NEUROLOGISTS,CARDIOLOGISTS,AUDIOLOGISTS,AND OPHTHALMOLOGISTS

this 15 yr old boy complains of long neck. he has 3 extra vertebrae a condition called as supernumerary vertebrae with congenital scoliosis. the extra vertebrae press on hus nerves in his neck and make it difficult for him to walk. currently he doesnt like fo go out anymkre because his condition attracts attention from strangers as he struggles to walk

A 36-year-old male with right sided inguinal hernia was posted for herniorrhaphy. Airway examination revealed webbing of neck with limited flexion-extension and sideways neck movement. Mouth opening was adequate with a modified Mallampati class 2 airway. Patient was having cleft palate and presented with a nasal voice. He also had low posterior hairline and scoliosis in the upper thoracic spine with lumbar lordosis with rotated spine. The patient presented with elevated scapula on the right side with drooping of shoulder on the left side. The clinical findings of short neck , limited neck movement , low posterior hairline and associated scoliosis led to suspicion of Klippel-Feil-Syndrome. X-rays of cervical and thoracic spine-lateral and anterior-posterior views were obtained. The rest of systemic examination and investigations were normal. The surgery was planned under spinal anaesthesia. Standard preoperative preparations were carried out and difficult airway cart was kept ready. With patient in the left lateral position and under all aseptic precautions, spinal anaesthesia was attempted through midline approach by senior anaesthesiologist in L3-L4 interspace using 25 gauge Quincke’s needle. Subarachnoid block was achieved with 2.2 ml of 0.5% hyperbaric bupivacaine. Patient was sedated with 10 mg fortwin and 25 mg ketamine to allay anxiety. The intra- and post-operative period was uneventful.

7 months old boy with right hand going back normally. And have wrinkling around scapular angle. is it springer's deformity??

Whats your views on this case? A girl child, 4 year old attended outpatient department of orthopaedic surgery with painless deformity since birth of neck i.e. torticollis of left side. There was no antenatal history of fever, hypertension, drug intake and any other significant event during pregnancy. Natal History: Full term normal delivery at home and child cried soon after birth. Post natal History. No history of high fever, trauma & child was having complete course of vaccination. She was having normal over all physical & mental development & started yearly neck holding, sitting, crawling & standing. She started walking in ninth month earlier than her elder brother. She goes to school with satisfactory progress as per her class teacher. She is shy, intelligent and understand all exercises herself. She is independent in all her daily activities. she was not shown to any doctor previously. On examination, she was having good built, short in height, head tilted to left side, low hair line, short neck, the distance between from tip of ear pinna to Trapezius upper border is grossly short as compare to healthy side. Flexion of neck without facial asymmetry. Mild cervicodorsal scoliosis present on left side neck. Range of movement of cervical spine. She can perform full flexion, partly extension, rotation & lateral bending showed Limitation of movement. There is no tenderness in cervical spine. Shoulder scapula is elevated on left side. Right shoulder showed normal range of movement whereas left shoulder had limitation of range of movement especially abduction after 90 degree. Cardio respiratory system, urinary system-examination revealed no abnormality. Radiological examination of cervical spine revealed blocked vertebrae C1, C2, C3 along with spinal bifida C6 & C7 and radiological examination of chest revealed high scapula on left side as compared with normal right shoulder joints. The case is diagnosed as Klippel Feil syndrome It is defined classically with a triad of short neck, a low posterior hairline and a limited range of neck movements especially of lateral bending. In fewer than 50% of cases have all the three elements. Cervical vertebral segmentation anomalies are referred to as the Klippel-Feil anomaly whether they involve fusion of 2 segments or the entire cervical spine. Klippel-Feil syndrome appears to be failure of the normal segmentation and fusion processes of mesodermal somites, which occurs between the third and seventh week of embryonic life. Case and Images taken from- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4719329/