2009, Number 3
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Perinatol Reprod Hum 2009; 23 (3)
Jeune Syndrome. Report of two cases in siblings and literature review
Jonguitud-Aguilar A, Cano-Muñiz A, Peña-Villalba M
Language: Spanish
References: 9
Page: 156-159
PDF size: 117.85 Kb.
ABSTRACT
Introduction: The study of patients with short ribs, narrow thorax and musculoskeletal disorders is a challenge for the treating physician. We present 2 cases of Jeune syndrome in siblings diagnosed in our hospital. We describe their clinical and imaging features.
Clinical picture: The two patients share the following characteristics: a narrow chest, almost suffocating; polydactyly; short limbs with rizomelia; postaxial polydactyly in 4 limbs; small hands and feet; and separated nipples. Radiologically they had short ribs, elevated clavicles, and disorders of epiphyses, pelvis and acetabulum. The first patient died after 8 days of life, the second had a less severe picture and he was admitted still with dyspnea but stable.
Conclusions: The Jeune syndrome is a rare entity affecting the life and function of the patient in varying degrees; it has a recessive autosomal heritage pattern; and it requires genetic counseling of parents and a multidisciplinary team for its approach and handling.
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