Bohring Opitz Syndrome: A Case Of A Rare Genetic Disorder

Bohring-Opitz syndrome (BOS) is a rare genetic disorder, characterized by feeding difficulties, developmental delay, microcephaly, micrognathia, limb anomalies, and typical phenotypic facial features. The cause of the syndrome is identified as de novoheterogeneous mutations in the ASXL1 gene, but other mutations have been described in some patients. Most patients die in early childhood due to infections and comorbidities. As molecular confirmation by genetic studies is not always possible, this syndrome is diagnosed on the basis of distinctive clinical features. We report a case of the 6-month-old male child having gastroesophageal reflux and physical features of microcephaly, sloping forehead, sparse hair, craniosynostosis, telecanthus, hypertelorism, prominent eyes, posteriorly rotated ears, high-arched palate, micrognathia, pes planus, and typical BOS posture. A multidisciplinary approach is required for managing these patients.

Pharmacognostical, Phytochemical and Pharmacological Overview: Cissus quadrangularis Linn.

Cissus quadrangularis (Linn) has been used by the common man in India, and neighboring countries, Pakistan, Sri Lanka, Malaysia for promotion of fracture healing and well known as “Hadjod”. It is also known as Vitis quadrangularis Wall. belongs to family Vitaceae. It is a common perennial climber, which is distributed throughout India, particularly in tropical regions. It requires warm tropical climate and propagated by stem cuttings. The plant is prescribed in the ancient Ayurvedic literature as a general tonic and analgesic, with specific bone fracture healing properties. The plant is believed to be useful in helminthiasis, anorexia, dyspepsia, colic, flatulence, skin diseases, leprosy, hemorrhage, epilepsy, convulsion, haemoptysis, tumors, chronic ulcers, swellings. The scrutiny of the present overview revealed pharmacognostical, phytochemical and some notable pharmacological activities of the plant such as Anti-osteoporotic activity, antioxidant, free radical scavenging, antimicrobial, antibacterial, bone healing, anti ulcer, analgesic and anti inflammatory, diuretic, Anabolic and Androgenic activity and toxicity studies.