Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Jun;49(5):498-501.
doi: 10.1002/jcu.22942. Epub 2020 Nov 12.

Prenatal diagnosis of Kagami-Ogata syndrome

Cristina Molinet Coll  1 , Joan Sabrià Bach  1 , Montserrat Izquierdo Renau  1 , Ana Alarcón Allen  1 , David Monk  2   3 , Olga Gómez Del Rincón  1 , Montserrat Milà Recasens  4   5 , Josep Maria Martínez Crespo  1
Affiliations
Case Reports

Prenatal diagnosis of Kagami-Ogata syndrome

Cristina Molinet Coll et al. J Clin Ultrasound. 2021 Jun.

Abstract

Kagami-Ogata syndrome (KOS14) is a rare congenital disorder associated with defective genomic imprinting of the chromosome 14q32 domain. Typical features include polyhydramnios, small and bell-shaped thorax, coat-hanger ribs, dysmorphic facial features, abdominal wall defects, placentomegaly, severe postnatal respiratory distress and intellectual disability. To the best of our knowledge, this may be the first case where ultrasound findings such as: severe polyhydramnios, a small bell-shaped thorax, a protuberant abdomen and characteristic dysmorphic face prompted directed family interrogation finally leading to the prenatal diagnosis of KOS14.

Keywords: bell-shaped thorax; coat-hanger ribs; malformations; obstetrics; polyhydramnios; protruding philtrum.

PubMed Disclaimer

References

REFERENCES

    1. Sasaki A, Sumie M, Wada S, et al. Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat-like phenotype. Am J Med Genet A. 2014;164A(1):264-266.
    1. Yamanaka M, Ishikawa H, Saito K, et al. Prenatal findings of paternal uniparental disomy 14: report of four patients. Am J Med Genet A. 2010;152A(3):789-791.
    1. Curtis L, Antonelli E, Vial Y, et al. Prenatal diagnostic indicators of paternal uniparental disomy 14. Prenat Diagn. 2006;26(8):662-666.
    1. Suzumori N, Ogata T, Mizutani E, et al. Prenatal findings of paternal uniparental disomy 14: delineation of further patient. Am J Med Genet A. 2010;152A(12):3189-3192.
    1. Wang JC, Passage MB, Yen PH, Shapiro LJ, Mohandas TK. Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier. Am J Hum Genet. 1991;48(6):1069-1074.

Publication types

Supplementary concepts

LinkOut - more resources