Small and Narrow Chest

 
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Question :
Supriya Bisht, Kumari Pratima
Department of Paediatrics,Vardhman Mahavir Medical College & Safdarjung Hospital, New Delhi, India

Address for Correspondence: Dr Supriya Bisht, 973,Ground Floor, Sector 1,Vasundhara, Ghaziabad, U.P, India. Email: supriyabisht07@gmail.com

A 7 year old girl presented in emergency with severe respiratory distress. She had frequent episodes of respiratory difficulty since birth. On examination, her chest was small and narrow with abnormal protrusion. Upon auscultation, bilateral rhonchi were present. Her X-ray chest was suggestive of narrow chest with short and horizontal ribs.

What is the diagnosis_?
Expert Opinion :
Asphyxiating thoracic dystrophy {Jeune syndrome} is a rare disease characterized by small thorax and short limb dwarfism with multi-organ involvement. {1,2} The inheritance of asphyxiating thoracic dystrophy is autosomal recessive. A locus has been identified on chromosome 15q13. {3} Diagnosis is based on clinical and radiographic findings. The radiological appearance include narrow chest cage, especially in its upper part, with the relative flaring of lower ribs, which accounts for the bell shape. The ribs are short and horizontal in position, their distal metaphyses widened and the costochondral junctions expanded and irregular. Clavicles are high. {4} The small, narrow thorax often results in respiratory distress and recurrent respiratory infections in the neonatal period and infancy. {2} The severity of thoracic constriction varies. Treatment is primarily symptomatic support. Patients surviving infancy may develop progressive renal failure later in life. {5} Liver, pancreas and retinal abnormalities have also been described. The thoracic malformation tends to become less severe with age, resulting in less respiratory problems. {2}

Conflict of interest: none.
Funding: none

References:
1} Tüysüz B, Baris S, Aksoy F, Madazli R, Üngür S, Sever L. Clinical variability of asphyxiating thoracic dystrophy {Jeune} syndrome: Evaluation and classification of 13 patients. Am J Med Genet Part A.2009`149A:1727–1733.
2} De Vries J, Yntema J L, van Die C E, Crama N, Cornelissen E A, Hamel B C. Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. Eur. J. Pediatr. 2010`169:77–88.
3} Morgan NV, Bacchelli C, Gissen P, Morton J, Ferrero GB, Silengo M, et al. A locus for asphyxiating thoracic dystrophy, ATD maps to chromosome 15q13. J Med Genet. 2003`40:431–435.
4} Barnes ND, Hull D, Simons JS. Thoracic dystrophy. Arch Dis Child. 1969` 44:11–17.
5} Hennekam RCM, Beemer FM, Gerards LJ, Cats B. Thoracic pelvic phalangeal dystrophy {Jeune syndroom}.TijdschrKindergeneeskd.1983` 51:95–100.

Correct Answers : yes  6%

Last Shown : Jun 2015
 
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