Thoracolaryngopelvic Dysplasia

Clinical Features

Barnes et al. (1969) reported 2 unrelated infants with thoracic dystrophy. The second child showed classic features of Jeune syndrome (see 208500); the first, however, was unusual in that the rib shortening was less severe, there was laryngeal stenosis, and similar but less severe clinical features were present in the mother. Subsequently the mother gave birth to a second child with the same syndrome. In view of the early death of the first sib, surgery to increase thoracic volume was performed. This intervention, a qualified success, was reported by Barnes et al. (1971). Burn et al. (1986) gave a follow-up of this family with the conclusion that it represents a distinct disorder which they called thoracolaryngopelvic dysplasia or Barnes syndrome. The mother had 'chest infections' in early childhood, grew to an adult height of 170.2 cm, required cesarean section because of small pelvis, and had complications of anesthesia because of laryngeal stenosis and reduced lung volume. Her first child, reported by Barnes et al. (1969), died at 7 weeks of age. Necropsy showed small lungs, abnormal laryngeal cartilages, and widely expanded costochondral junctions with 'dystrophic' changes histologically. Her second child was the subject of the report by Barnes et al. (1971). At 6.5 months the sternum was split and bone grafts inserted as struts to hold the halves apart. She remained on ventilatory support at home until age 4 years and had a tracheostomy in place until age 9 years. At the age of 14 years she developed respiratory failure following a chest infection and again required tracheostomy. Her height was at the 50th centile. Death due to severe respiratory failure and cor pulmonale occurred soon thereafter. Burn et al. (1986) suggested that the family reported by Bankier and Danks (1983) as thoracopelvic dysostosis (187770) may have had this disorder.