Abstract
The Sri Lankan Journal of Anaesthesiology is the official journal of the College of Anaesthesiologists of Sri Lanka. It publishes clinical investigations, research articles, audits, case reports, review articles and CME articles relating to anaesthesiology, critical care and pain. It is published bi annually in January and June. Sri Lankan Journal of Anaesthesiology is included on DOAJ and Scopus.
Highlights
Beals-Hecht syndrome is a rare autosomal dominantly inherited single gene disorder caused due to mutation in fibrillin 2 gene (FBN2) in chromosome 5q23, affecting connective tissue
We present here successful intubation using video laryngoscope in an anticipated difficult airway in a 2 month old infant with Beals syndrome
Beals-Hechts syndrome or Congenital Contractural Arachnodactyly (CCA) is a rare connective tissue disorder and classified as distal arthrogryposis Type 9.2 The incidence of CCA is unknown and difficult to estimate due to its phenotypic overlap with Marfan syndrome (MFS), as the clinical distinction is difficult in these two related disorders.[3]
Summary
Beals-Hecht syndrome (congenital contractural arachnodactyly) is a rare autosomal dominantly inherited single gene disorder caused due to mutation in fibrillin 2 gene (FBN2) in chromosome 5q23, affecting connective tissue. We present here successful intubation using video laryngoscope in an anticipated difficult airway in a 2 month old infant with Beals syndrome Since the child presented with bilateral CTEV, bilateral elbow contracture, scoliosis, micrognathia, limited mandibular excursion and cleft palate, further thorough clinical and radiological examination was done in our hospital and the neonate was suspected to be a case of Beals syndrome which was confirmed on further genetic workup.
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