The life-saving procedures to expand the chests of infants born with Jeune asphyxiating thoracic dystrophy provide a static solution incapable of responding to the growth demands of thriving patients. We describe an instrument that provided a dynamic solution for an infant, where an initial methyl methacrylate midsternotomy spacer placed at 4 months of age was followed at 11 months with recurrence of his difficulties. At 8 months after the second operation the patient was stable and thriving with no recurrence of symptoms. The instrument modifications, limitations, and possible complications are described.
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http://dx.doi.org/10.1016/s0003-4975(01)02565-6 | DOI Listing |
Turk J Ophthalmol
February 2025
İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Ophthalmology, İstanbul, Türkiye
Jeune syndrome (JS), first described by Jeune as asphyxiating thoracic dystrophy, is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities and variable renal, hepatic, pancreatic, and ocular complications. Approximately 1 in every 100,000 to 130,000 babies is born with JS. Most patients with JS have respiratory distress due to inadequate lung development and many lose their lives due to respiratory failure.
View Article and Find Full Text PDFProg Retin Eye Res
December 2024
Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives.
View Article and Find Full Text PDFDiagnostics (Basel)
November 2024
Laboratorio di Genetica Umana, Altamedica, Viale Liegi 45, 00198 Rome, Italy.
Ciliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenotypic overlap and primarily affects skeletal development. This group includes several syndromes with overlapping but distinct clinical features, such as short-rib polydactyly syndrome (SRPS), Jeune asphyxiating thoracic dystrophy (JATD), Mainzer-Saldino syndrome (MZSDS), and cranioectodermal dysplasia (CED), also called Sensenbrenner syndrome.
View Article and Find Full Text PDFRadiol Case Rep
December 2024
University of Baghdad, College of Medicine, Baghdad, Iraq.
Jeune syndrome, a rare autosomal recessive disorder, is characterized by skeletal abnormalities, particularly a narrow, bell-shaped chest, leading to severe respiratory distress in newborns. This case report details a full-term female neonate presenting with significant respiratory challenges, typical skeletal features, and early-onset renal dysfunction. Despite normal initial imaging, persistent renal abnormalities were observed, underscoring the need for early diagnosis, vigilant monitoring, and a multidisciplinary management approach to optimize outcomes for patients with Jeune syndrome.
View Article and Find Full Text PDFInterdiscip Cardiovasc Thorac Surg
August 2024
Pediatric Intensive Care Unit, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
This report describes a 4-year-old girl diagnosed with asphyxiating thoracic dystrophy who experienced severe respiratory distress and multiple complications after undergoing a corrective operation for a thoracic deformity. The optimal age for children with asphyxiating thoracic dystrophy to receive a corrective operation is between 6 and 12 years old. For children under 6 years old, the decision to undergo an operation should be carefully evaluated.
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