Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound

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Summary

Background

Jeune syndrome is a rare congenital malformation with a reported incidence of 1 in 100,000–130,000 live births. Thoracic hypoplasia is the most striking abnormality of this disorder. Here we report a case of Jeune syndrome with marked thoracic hypoplasia, micromelia and facial dysmorphism, which was diagnosed on a second-trimester antenatal real-time three-dimensional ultrasound.

Case Report

A 24-year-old primigravida came for routine anomaly scan at 19 weeks of gestation. Transabdominal grey scale and real time 3D ultrasound (US) was done with GE Logiq P5 with curvilinear array transducers (4C and 4D3C-L). US findings were consistent with the diagnosis of Jeune syndrome (Asphyxiating thoracic dysplasia).

Conclusions

Jeune syndrome is an extremely rare congenital disorder with a spectrum of abnormalities of which thoracic hypoplasia is the most striking. It can be diagnosed on early antenatal US by its characteristic skeletal and morphological features which can guide further management of pregnancy in form of termination or preparation for surgical correction of the deformity.

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Most cited references 15

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Assessment of lung area in normal fetuses at 12-32 weeks.

H Vandecruys, K Nicolaides, B Csapo … (2005)

To establish reference intervals with gestation for the right and left lung areas and lung area to head circumference ratio (LHR).

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Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.

Andy Yong, F Hildebrandt, Valerie S. Langlois … (2010)

Ciliary disorders share typical features, such as polydactyly, renal and biliary cystic dysplasia, and retinitis pigmentosa, which often overlap across diagnostic entities. We report on two siblings of consanguineous parents and two unrelated children, both of unrelated parents, with co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy, an association that adds to the observation of common final patterns of malformations in ciliary disorders. Using homozygosity mapping in the siblings, we were able to exclude all known genes/loci for both syndromes except for INVS, AHI1, and three genes from the previously described Jeune locus at 15q13. No pathogenic variants were found in these genes by direct sequencing. In the third child reported, sequencing of RPGRIP1L, ARL13B, AHI1, TMEM67, OFD1, CC2D2A, and deletion analysis of NPHP1 showed no mutations. Although this study failed to identify a mutation in the patients tested, the co-occurrence of Joubert and Jeune syndromes is likely to represent a distinct entity caused by mutations in a yet to be discovered gene. The mechanisms by which certain organ systems are affected more than others in the spectrum of ciliary diseases remain largely unknown. (c) 2010 Wiley-Liss, Inc.

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Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).

Kim Keppler-Noreuil, Margaret P Adam, Judy Welch … (2011)

Jeune syndrome, originally described as asphyxiating thoracic dystrophy by Jeune et al. [Jeune et al. (1955); Arch Fr Pediatr 12:886-891], is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities, and variable renal, hepatic, pancreatic, and retinal complications. We present eight patients, including two brothers with Jeune syndrome, and an extensive review of 118 cases in the published literature with the purposes of: (1) defining the clinical and radiological diagnostic criteria for Jeune syndrome; (2) comparing our cases to those in the literature meeting the documented clinical and radiological findings of Jeune syndrome, in order to: (3) provide an accurate clinical characterization of Jeune syndrome with frequency of associated complications and outcome data. In order to estimate the frequency of phenotypic abnormalities in Jeune syndrome as precisely as possible, we did not include reports in the literature with incomplete descriptions of the radiologic and clinical findings, nor those reports having additional findings overlapping with other syndromes. We found that the occurrence of renal, hepatic, and ophthalmologic complications is variable; does not correlate with severity of the skeletal phenotype; nor is it predictable even with the presence of a well-defined skeletal phenotype, as in this study. Based upon these cases with Jeune syndrome, renal and hepatic abnormalities occur in approximately 30% of cases, with renal failure occurring in 38% of those with kidney involvement. Eye abnormalities are reported in 15%, but it is unclear whether this represents under-ascertainment. There is a 1.2:1 ratio between living and deceased patients; a respiratory cause of death is most common, occurring almost exclusively in those less than 2 years of age, and a renal etiology accounts for all deaths between the ages of 3-10 years of age. There is a paucity of affected individuals reported in the literature greater than age 20 years, and a lack of longitudinal data to obtain accurate data on morbidity and mortality of Jeune syndrome at older ages. This study provides a well-defined group of patients with Jeune syndrome with delineation of the frequency of associated findings, which may form a basis for current and future genotype-phenotype studies.

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Author and article information

Journal

Journal ID (nlm-ta): Pol J Radiol

Journal ID (iso-abbrev): Pol J Radiol

Journal ID (publisher-id): Pol J Radiol

Title: Polish Journal of Radiology

Publisher: International Scientific Literature, Inc.

ISSN (Print): 1733-134X

ISSN (Electronic): 1899-0967

Publication date Collection: 2015

Publication date (Electronic): 07 June 2015

Volume: 80

Pages: 296-299

Affiliations

[1 ]Department of Radiology, Dr. Rajendra Prasad Government Medical College, Kangra, India

[2 ]Department of Radiology, Baroda Medical College, Vadodara, India

[3 ]Department of Biostatistics, Icahn School of Medicine at Mount Sinai, New York, NY, U.S.A.

[4 ]Department of Physiology, Baroda Medical College, Vadodara, India

Author notes

Author’s address: Kewal A. Mistry, Department of Radiology, Dr. Rajendra Prasad Government Medical College, Kangra, India, e-mail: drkewalmd@ 123456gmail.com

[A]

Study Design

[B]

Data Collection

[C]

Statistical Analysis

[D]

Data Interpretation

[E]

Manuscript Preparation

[F]

Literature Search

[G]

Funds Collection

Article

Publisher ID: 894188

DOI: 10.12659/PJR.894188

PMC ID: 4463774

SO-VID: 7058bec6-871c-423b-b027-e1950599f930

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This is an open access article. Unrestricted non-commercial use is permitted provided the original work is properly cited.

Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound

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Summary

Background

Case Report

Conclusions

Related collections

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Most cited references 15

Assessment of lung area in normal fetuses at 12-32 weeks.

Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).

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