Quand faut-il évoquer en anténatal une disomie uniparentale paternelle 14 ?

Boiffard, Florence; Bénéteau, Claire; Quere, M. P.; Philippe, Henri-Jean; Vaillant, C. Le

doi:10.1016/j.gyobfe.2013.09.001

Cited by 2 publications

(3 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Male patients with KOS have also been reported to have cryptorchidism, hypospadias, bilateral scrotum (scrotal fission), and penile scrotal transposition. 1,[6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21] It is unknown whether KOS affects fertility. To date only four adult cases of KOS have been described and no comments regarding their fertility were made by the authors.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…2,26 Paternally inherited Robertsonian translocations and maternally inherited microdeletions are associated with increased recurrence risk in future pregnancies. 17,[25][26][27] Only two cases of UPD( 14)pat mosaicism have been reported to date. 11,28 Our review found that the reported frequency of KOS due to epimutations was lower (8.4% compared with 15.4%) than previously reported.…”

Section: Geneticsmentioning

confidence: 99%

“…To date, only few cases of prenatal diagnosis have been reported in literature. 16,17,[30][31][32] Although polyhydramnios is present in nearly all patients with KOS (►Fig. 5), the presence of polyhydramnios is nonspecific.…”

Section: Prenatal Diagnosismentioning

confidence: 99%

See 2 more Smart Citations

Kagami-Ogata Syndrome: Case Series and Review of Literature

Sakaria

Mostafavi

Miller

et al. 2021

AJP Rep

View full text Add to dashboard Cite

Kagami-Ogata syndrome (KOS) (OMIM #608149) is a genetic imprinting disorder affecting chromosome 14 that results in a characteristic phenotype consisting of typical facial features, skeletal abnormalities including rib abnormalities described as “coat hanger ribs,” respiratory distress, abdominal wall defects, polyhydramnios, and developmental delay. First identified by Wang et al in 1991, over 80 cases of KOS have been reported in the literature. KOS, however, continues to remain a rare and potentially underdiagnosed disorder. In this report, we describe two unrelated male infants with differing initial presentations who were both found to have the characteristic “coat hanger” rib appearance on chest X-ray, raising suspicion for KOS. Molecular testing confirmed KOS in each case. In addition to these new cases, we reviewed the existing cases reported in literature. Presence of polyhydramnios, small thorax, curved ribs, and abdominal wall defects must alert the perinatologist toward the possibility of KOS to facilitate appropriate molecular testing. The overall prognosis of KOS remains poor. Early diagnosis allows for counseling by a multidisciplinary team and enables parents to make informed decisions regarding both pregnancy management and postnatal care.

show abstract

Section: Clinical Featuresmentioning

confidence: 99%

Section: Geneticsmentioning

confidence: 99%

See 1 more Smart Citation

Kagami-Ogata Syndrome: Case Series and Review of Literature

Sakaria

Mostafavi

Miller

et al. 2021

AJP Rep

View full text Add to dashboard Cite

show abstract

Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome

Altmann

Horn

Korinth

et al. 2020

J of Clinical Ultrasound

View full text Add to dashboard Cite

We report the case of a fetus with sonographic characteristics of Beckwith‐Wiedemann syndrome (BWS). A 30‐year‐old gravida 2 para 1 was referred to our fetal medicine unit with an omphalocele. Fetal macrosomia, organomegaly, and polyhydramnios but no macroglossia were detected and BWS was suspected. Genetic testing for BWS did not confirm the suspected diagnosis as the karyotype was normal. Symptomatic polyhydramnios led to repeated amnioreductions. At 35 + 5 weeks of gestation, a female neonate of 3660 g was delivered with APGAR scores of 6/7/8, after 1/5/10 min, respectively. The abnormal shape of the thorax, facial dysmorphism, need for ventilation, and generalized muscular hypotonia led to the suspicion of Kagami‐Ogata syndrome (KOS), which was confirmed by genetic testing. KOS in our patient was caused by a large deletion in the MEG3‐region on chromosome 14q32 affecting the maternal allele. In this report, we highlight the notion that when sonographic signs suggestive of BWS such as macrosomia, polyhydramnios, and omphalocele are present and genetic testing does not confirm the suspected diagnosis, KOS should be tested for.

show abstract

Quand faut-il évoquer en anténatal une disomie uniparentale paternelle 14 ?

Cited by 2 publications

References 8 publications

Kagami-Ogata Syndrome: Case Series and Review of Literature

Kagami-Ogata Syndrome: Case Series and Review of Literature

Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome

Contact Info

Product

Resources

About