Preferred Label : Thoracolaryngopelvic dysplasia;
Symbol : TLPD;
CISMeF acronym : TLPD;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Barnes syndrome;
Description : Barnes et al. (1969) reported 2 unrelated infants with thoracic dystrophy. The second
child showed classic features of Jeune syndrome (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.
*FIELD* RF 1. Bankier, A.; Danks, D. M.: Thoracic-pelvic dysostosis: a 'new' autosomal
dominant form. J. Med. Genet. 20: 276-279, 1983. 2. Barnes, N. D.; Hull, D.; Milner,
A. D.; Waterston, D. J.: Chest reconstruction in thoracic dystrophy. Arch. Dis. Child.
46: 833-837, 1971. 3. Barnes, N. D.; Hull, D.; Symons, J. S.: Thoracic dystrophy.
Arch. Dis. Child. 44: 11-17, 1969. 4. Burn, J.; Hall, C.; Marsden, D.; Matthew, D.
J.: Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome. J. Med. Genet.
23: 345-349, 1986. *FIELD* CS Autosomal dominant;
Inheritance : Autosomal dominant;
Prefixed ID : 187760;
Origin ID : 187760;
UMLS CUI : C1861197;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
