Prenatal diagnosis of Kagami‐Ogata syndrome

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.

[1]  D. Horn,et al.  Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome , 2020, Journal of clinical ultrasound : JCU.

[2]  T. Ogata,et al.  Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region , 2015, Journal of Human Genetics.

[3]  T. Ogata,et al.  Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome) , 2015, European Journal of Human Genetics.

[4]  T. Ogata,et al.  Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat‐like phenotype , 2014, American journal of medical genetics. Part A.

[5]  T. Ogata,et al.  Prenatal findings of paternal uniparental disomy 14: Delineation of further patient , 2010, American journal of medical genetics. Part A.

[6]  G. Nishimura,et al.  Prenatal findings of paternal uniparental disomy 14: Report of four patients , 2010, American journal of medical genetics. Part A.

[7]  A. Ferguson-Smith,et al.  Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes , 2008, Nature Genetics.

[8]  A. Bottani,et al.  Prenatal diagnostic indicators of paternal uniparental disomy 14 , 2006, Prenatal diagnosis.

[9]  P. Yen,et al.  Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier. , 1991, American journal of human genetics.