Curtis Logos, Antonelli Eric, Vial Yvan, Rimensberger Peter, Le Merrer Martine, Hinard Christine, Bottani Armand, Fokstuen Siv
Division of Medical Genetics, Geneva University Hospitals, Geneva, Switzerland.
Prenat Diagn. 2006 Aug;26(8):662-6. doi: 10.1002/pd.1453.
To present clinical findings of a child with paternal uniparental isodisomy 14 (pat UPD14) focusing on relevant prenatal characteristics.
METHODS/RESULTS: Ultrasonography at 23 weeks of gestation of a 37-year-old multigravid woman revealed a fetus with polyhydramnios, small thorax, and short, distinctively angled ribs. Fetal karyotype was 46,XY. The child was born spontaneously at 35 weeks with poor neonatal adaptation. From birth, he presented with severe respiratory insufficiency due to severe thoracic malformation. Clinical examination revealed a small, bell-shaped thorax, redundant lax skin, mild contractures of the fingers and dysmorphic facial features. Chest X rays showed short, abnormally curved ribs that suggested the possibility of pat UPD14, which was confirmed by molecular analysis.
Pat UPD14 is associated with a distinct clinical phenotype. Prognosis is poor because of severe respiratory insufficiency and neurodevelopmental retardation. Our report confirms salient postnatal signs of previous descriptions, especially the characteristic radiological abnormalities with ribs showing a 'coat-hanger' configuration. Retrospective fetal ultrasound of our case allowed the identification of this pathognomonic feature prenatally, which makes it possible to consider pat UPD14 at routine prenatal sonography, in particular in combination with a small bell-shaped thorax and polyhydramnios.
呈现一名患有父源单亲二体14（pat UPD14）患儿的临床发现，重点关注相关的产前特征。
方法/结果：一名37岁经产妇在妊娠23周时进行超声检查，发现胎儿有羊水过多、胸廓小以及肋骨短且角度独特。胎儿核型为46,XY。该患儿在35周时自然分娩，新生儿适应能力差。自出生起，他因严重的胸廓畸形而出现严重的呼吸功能不全。临床检查发现胸廓小呈钟形、皮肤松弛多余、手指轻度挛缩以及面部畸形特征。胸部X线显示肋骨短且异常弯曲，提示可能存在pat UPD14，分子分析证实了这一点。
Pat UPD14与一种独特的临床表型相关。由于严重的呼吸功能不全和神经发育迟缓，预后较差。我们的报告证实了先前描述的显著产后体征，尤其是肋骨呈现“衣架”形态的特征性放射学异常。对我们病例的回顾性胎儿超声检查能够在产前识别出这种特征性表现，这使得在常规产前超声检查中，特别是结合小钟形胸廓和羊水过多的情况时，有可能考虑到pat UPD14。
