Ehlers-Danlos syndrome is a rare, heritable connective tissue disorder characterized by soft, hyperextensible skin, joint hypermobility, and tissue fragility, the severity of which can range from mild to severe. A 9-month-old male entire miniature Dachshund was presented following peracute tetraparesis. Neurological examination was suggestive of intracranial vestibular disease or high cervical myelopathy. MRI revealed atlantoaxial instability and subluxation, resulting in marked spinal cord compression at C1-C2, which was surgically stabilized. On discharge from the hospital, skin fragility was noted as the result of skin tearing during tape removal. A piece of full-thickness antebrachial skin was submitted for histopathology which showed changes consistent with Ehlers-Danlos syndrome. This case report describes the first case of atlantoaxial instability and subluxation in a dog as the result of a confirmed underlying collagenopathy.

An inflammatory collagenopathy of infancy characterized by subperiosteal bone hyperplasia is known as infantile cortical hyperostosis (ICH) or Caffey disease. A 10-day male infant presented to the hospital with leg swelling, excessive crying, and irritability since birth. He was born with the swallowed part of his tibia bone. The X-ray suggested hyperostosis of the bilateral tibia bone involving the anterior cortex, which is more prominent on the right side. The infant was clinically monitored and treated and discharged after the swelling was reduced. Again, he was admitted to the hospital at 10 weeks of life, and a similar thickening appeared on his left tibia. He was administered analgesics and non-steroidal anti-inflammatory drugs (NSAIDs) and discharged under a follow-up schedule. The infant was monitored in the pediatric ward for the next seven days. The swelling and pain completely subsided one and a half weeks after hospitalization, and continued follow-up was suggested until the complete correction of the disease on an outpatient basis. This disease must be recognized and understood, and the clinical-radiological correlation is significant.

Knobloch syndrome is a rare collagenopathy characterized by severe early onset myopia, retinal detachment, and occipital encephalocele with various additional manifestations due to biallelic changes in the COL18A1 gene. Here we reported a Chinese family with two affected siblings presented with antenatal occipital encephalocele, infantile onset retinal detachment, and pronounced high myopia at early childhood. Quartet whole exome sequencing was performed in this family and identified that both siblings carried novel compound heterozygous variants in the COL18A1 gene (NM_001379500.1): the maternally inherited variant c.1222-1G>A at the consensus acceptor splice site of intron 8, and the paternally inherited frameshift variant c.3931_3932delinsT p.(Gly1311Serfs*25) in the last exon. Both patients had successful surgical treatment for the occipital encephalocele soon after birth. They had normal neurocognitive outcome and good general conditions examined at the age of 7 years old for the elder sister and 4 years old for the younger brother. The younger brother developed infantile onset retinal detachment at 7 months of age while the sister had high myopia without signs of retinal detachment until 7 years old. This report expands the phenotype and genotype spectrum of Knobloch syndrome with antenatal and postnatal findings.

BACKGROUND: Kniest dysplasia is a type of chondrodysplasia characterized by severe craniofacial abnormalities including tracheomalacia, midface hypoplasia, and cleft palate.
METHODS: We previously described a 6-year-old girl with Kniest dysplasia, in whom glottic edema rapidly developed after tracheal intubation. At the age of 13 years, a reoperation was scheduled to correct talipes equinovarus but was subsequently canceled due to failure of tracheal intubation and subsequent glottic edema. Airway evaluation by endoscopy and computed tomography 1 month later revealed severe laryngeal narrowing. Therefore, the second anesthesia was maintained with spinal anesthesia combined with sciatic nerve block without tracheal intubation.
CONCLUSIONS: Careful perioperative airway evaluation is required in patients with Kniest dysplasia, and alternative strategies for airway management other than tracheal intubation should be considered.