Neonatal Case of Mckusick-Kaufman Syndrome Difficulty of Diagnosis and Management

Ksibi, Imen; Achour, Radhouane; Nadia, Ben Jamaa; Wafa, Bennour

doi:10.4172/2167-0897.1000235

Cited by 4 publications

(2 citation statements)

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“…MKKS is usually diagnosed on the basis of the typical diagnostic triad Fig. 2 Pre-and postnatal (postmortem) imaging in a fetus with Jeune syndrome: prenatal ultrasound showed a micromelia with a curved femur as well as b kidneys with missing corticomedullary differentiation at 21 + 3 weeks; c-e postnatal (post-mortem) radiography of the stillborn (TOP at 22 + 3 weeks): note the micromelia with the curved long bones as well as short ribs; e shows the typical "trident" appearance of the acetabular roof (white arrows) of hydrometrocolpos, postaxial polydactyly and congenital cardiac disease [19][20][21], which, in our cohort, were present in 83%, 67%, and 50%, respectively. Hydronephrosis was the leading renal abnormality and present in all our MKKS/BBS cases with either normal or enhanced amniotic fluid in 83% of all cases.…”

Section: Discussionmentioning

confidence: 99%

Fetal ciliopathies: a retrospective observational single-center study

Simonini

Floeck

Strizek

et al. 2021

Arch Gynecol Obstet

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Purpose Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. Methods Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ciliopathies, such as hyperechogenic kidneys together with polydactyly and/or other skeletal and extraskeletal findings. Cases were compared according to their prenatal findings and outcomes. Results 36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick–Kaufmann syndrome (MKKS, n = 4/36, 11.1%), Bardet–Biedl syndrome (BBS, n = 2/36, 5.5%) and Joubert syndrome (n = 1/36, 2.8%). All cases showed abnormalities of the kidneys, most often hyperechogenic parenchyma (n = 26/36, 72.2%), cystic dysplasia (n = 24/36, 66.7%), and/or bilateral kidney enlargement (n = 22/36, 61.1%). Oligohydramnios was mainly present in fetuses with MKS. Polydactyly (n = 18/36), abnormalities of the CNS (n = 25/36), and heart defects (n = 10/36) were associated in 50%, 69.4%, and 27.8%, respectively. Conclusion Prenatal detection of renal abnormalities associated with skeletal or brain abnormalities should raise the suspicion for multisystem ciliopathies. Prenatal ultrasound can help to differentiate between different diseases and pave the way for subsequent targeted genetic testing.

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Section: Discussionmentioning

confidence: 99%

Fetal ciliopathies: a retrospective observational single-center study

Simonini

Floeck

Strizek

et al. 2021

Arch Gynecol Obstet

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“…Various vaginoplasty techniques are available. The surgical method should be chosen based on the patient and the type of anomaly, such as the McIndoe technique, which is the most popular and preferred technique 10. A technique developed by Vecchietti combines surgical and conservative methods and involves epithelialisation from the outer skin layer 11.…”

Section: Discussionmentioning

confidence: 99%

Hydrometrocolpos: antenatal diagnosis and postnatal management

Singh,

Mandelia,

Naranje

et al. 2023

BMJ Case Rep

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Hydrometrocolpos is a rare finding in newborns. It can be an isolated finding or may be associated with syndromes. Antenatal diagnosis is possible. It is due to the accumulation of secretion in the uterus, distending it and resulting in abdominal swelling. In case of suspected syndromes, an attempt should be made to look for other organ involvement and genetic diagnosis. We here report a term neonate with hydrometrocolpos, which was antenatally diagnosed and was managed conservatively.

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Whole Exome Sequencing in 11 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet- Biedl Syndrome

Seyedtaghia,

Habibi,

Hashemi-Gorji

et al. 2024

Preprint

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Objective: Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare autosomal recessive disorder characterized by a broad spectrum of clinical features including renal anomalies, learning disabilities, postaxial polydactyly, retinal dystrophy, obesity, and hypogenitalism. BBS is a heterogeneous syndrome, both genetically and clinically. To date, genetic variants in more than 28 genes have been associated with this syndrome and its subtypes. Most previous studies on BBS have failed to show clear genotype–phenotype correlations. Design and Methods: In order to investigate the spectrum of genetic variation among Iranian BBS patients, 11 subjects from 9 families with clinically diagnosed BBS were included in this study. Following informed consent, we applied whole exome sequencing (WES) to the proband and their parents. We next performed Sanger sequencing to validate the identified variants. Results: WES successfully identified three variants in the BBS9 gene: c.2014C>T, c.1789+1 G>A, and a novel deletion of exon 16. Two novel variants were identified in the BBS7gene: c.880G>C and c.719G>A. In addition, one novel variant was found in each of the CEP290 gene (c.5159C>G), TTC8 gene (c.462_465del), and MKKS gene (c.515_516delCT). One previously reported variant was also detected in the BBS10 gene (c.728_731del). Among the clinical manifestations observed, obesity and polydactyly were the most common findings. Conclusions: Our findings further support the high heterogeneity of BBS: by discovering six novel variants, we expand the mutational spectrum of BBS-related genes and contribute to the understanding of this multisystem disease.

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Neonatal Case of Mckusick-Kaufman Syndrome Difficulty of Diagnosis and Management

Cited by 4 publications

References 0 publications

Fetal ciliopathies: a retrospective observational single-center study

Fetal ciliopathies: a retrospective observational single-center study

Hydrometrocolpos: antenatal diagnosis and postnatal management

Whole Exome Sequencing in 11 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet- Biedl Syndrome

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