Prenatal ultrasound diagnostic features of frontonasal dysplasia and literature review

doi:10.3877/cma.j.issn.2095-655X.2026.03.008

Abstract

Abstract:

Objective

To investigate the prenatal ultrasound diagnostic features of frontonasal dysplasia (FND).

Methods

A retrospective analysis was conducted on the prenatal two-dimensional (2D) and three-dimensional (3D) ultrasound findings of a fetus initially diagnosed with " cleft nose" at the Department of Ultrasound Medicine, Affiliated Hospital of Jining Medical University on June 7, 2025. Combined with post-delivery examination findings and literature review, the sonographic characteristics of the fetal nose and face were analyzed to establish a refined diagnosis.

Results

A 30-year-old pregnant woman at 25^{+ 2} weeks of gestation was referred to the hospital due to two previous ultrasound examinations elsewhere suggesting fetal nasal abnormalities. The ultrasound revealed ocular hypertelorism. The coronal view of the nose and lips showed an intact upper lip, absence of the nasal tip, and " bifid" nostrils. 3D ultrasound demonstrated a broad nose, a " V-shaped" nasal tip, and a longitudinal depression on the mid-portion of the nasal dorsum. An initial diagnosis of possible nasal cleft was made, and genetic testing was recommended, but the patient declined. The patient opted for termination of pregnancy locally. Post-delivery external examination confirmed the prenatal findings, with no additional malformations observed. Based on a literature review and embryological analysis, the combination of hypertelorism and nasal cleft was recognized as falling within the FND spectrum, leading to an additional diagnosis of mild FND.

Conclusions

The presence of hypertelorism accompanied by a nasal cleft on prenatal ultrasound should raise high suspicion for FND. A comprehensive systematic ultrasound evaluation and genetic counseling are warranted in such cases.

Key words: Frontonasal dysplasia, Prenatal ultrasound diagnosis, Cleft nose, Facial abnormality, Three-dimension ultrasonography imaging

Kunpeng Li, Xiaohong Zhang, Aqing Liu, Yipeng Zhang, Hongshuang Sun. Prenatal ultrasound diagnostic features of frontonasal dysplasia and literature review[J]. Chinese Journal of Diagnostics(Electronic Edition), 2026, 14(03): 201-206.

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Figures/Tables 3

References 25

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序号	颜面部超声异常表现	其他伴发畸形	诊断孕周	妊娠结局	遗传学结果	发表年份	参考文献
1	眼距增宽、鼻根增宽、正中唇裂	脑积水，巨头畸形，颅骨塌陷	31周	死产	核型(46，XX)	1984	[17]
2	眼距增宽、鼻根增宽、鼻尖缺失、正中鼻裂、腭裂	枕顶部脑膨出，上颌骨发育不全，胼胝体发育不全，颅骨缺损	21^＋5周	终止妊娠	羊水穿刺示染色体正常	1996	[11]
3	眼距过宽、鼻根增宽、鼻尖缺失、正中鼻裂、正中唇裂	前部脑膨出，胼胝体发育不全，半侧巨脑畸形	22周	终止妊娠	核型(46，XY)	2002	[4]
4	眼距过宽、鼻根增宽、鼻尖缺失、单侧完全性唇腭裂	单侧脉络丛囊肿，额骨前移伴部分额叶膨出	19^＋3周	活产，发育缓慢	核型(46，XX)	2002	[6]
5	眼距增宽、鼻根增宽、鼻尖缺失、正中鼻裂	颧骨根部分离	未提及	终止妊娠	核型(46，XX)	2004	[15]
6	眼距增宽、鼻根增宽	轻微小下颌畸形	28周	活产，新生儿期死亡	核型(46，XX)	2008	[14]
7	眼距增宽、鼻根增宽、鼻尖缺失、正中鼻裂	轻度脑室不对称，胼胝体部分发育不全，相对巨头畸形，颅裂	22周	终止妊娠	核型(46，XY)	2011	[10]
8	眼距增宽、鼻尖缺失、正中鼻裂	额部脑膨出	27周	终止妊娠	核型(46，XY)	2013	[12]
9	眼距增宽、鼻根增宽、鼻尖缺失、正中鼻裂	小眼畸形，先天性白内障不排除，人中缺如，迷走右锁骨下动脉、十二指肠闭锁或严重狭窄可能，单脐动脉	28周	终止妊娠	核型(46，XY)	2013	[16]
10	眼距过宽、鼻根增宽、鼻尖缺失、正中鼻裂	右视神经、右嗅球发育不全	19^＋3周	活产，新生儿期死亡	核型(46，XY)	2014	[1]
11	眼距过宽、鼻根增宽、鼻尖缺失、正中鼻裂、腭裂	右耳皮赘及面部皮赘，下颌畸形，颅骨缺损	20周	终止妊娠	无创DNA检查低风险	2021	[13]
12	眼距增宽、鼻根增宽、鼻尖缺失、正中鼻裂	双侧侧脑室增宽，双眼发育不良，右足内翻	18周	终止妊娠	核型(46，XX)	2024	[2]
13	眼距增宽、鼻根增宽、鼻尖缺失、正中鼻裂、轻微唇裂	肢体异常，脑积水，胼胝体发育不良，室间隔缺损	20周	终止妊娠	核型(46，XY)	2024	[5]
14	眼距增宽、鼻根增宽、鼻尖缺失、正中鼻裂	无	25^＋2周	终止妊娠	无创DNA检查低风险	2026	本例

序号	颜面部超声异常表现	其他伴发畸形	诊断孕周	妊娠结局	遗传学结果	发表年份	参考文献
1	眼距增宽、鼻根增宽、正中唇裂	脑积水，巨头畸形，颅骨塌陷	31周	死产	核型(46，XX)	1984	[17]
2	眼距增宽、鼻根增宽、鼻尖缺失、正中鼻裂、腭裂	枕顶部脑膨出，上颌骨发育不全，胼胝体发育不全，颅骨缺损	21^＋5周	终止妊娠	羊水穿刺示染色体正常	1996	[11]
3	眼距过宽、鼻根增宽、鼻尖缺失、正中鼻裂、正中唇裂	前部脑膨出，胼胝体发育不全，半侧巨脑畸形	22周	终止妊娠	核型(46，XY)	2002	[4]
4	眼距过宽、鼻根增宽、鼻尖缺失、单侧完全性唇腭裂	单侧脉络丛囊肿，额骨前移伴部分额叶膨出	19^＋3周	活产，发育缓慢	核型(46，XX)	2002	[6]
5	眼距增宽、鼻根增宽、鼻尖缺失、正中鼻裂	颧骨根部分离	未提及	终止妊娠	核型(46，XX)	2004	[15]
6	眼距增宽、鼻根增宽	轻微小下颌畸形	28周	活产，新生儿期死亡	核型(46，XX)	2008	[14]
7	眼距增宽、鼻根增宽、鼻尖缺失、正中鼻裂	轻度脑室不对称，胼胝体部分发育不全，相对巨头畸形，颅裂	22周	终止妊娠	核型(46，XY)	2011	[10]
8	眼距增宽、鼻尖缺失、正中鼻裂	额部脑膨出	27周	终止妊娠	核型(46，XY)	2013	[12]
9	眼距增宽、鼻根增宽、鼻尖缺失、正中鼻裂	小眼畸形，先天性白内障不排除，人中缺如，迷走右锁骨下动脉、十二指肠闭锁或严重狭窄可能，单脐动脉	28周	终止妊娠	核型(46，XY)	2013	[16]
10	眼距过宽、鼻根增宽、鼻尖缺失、正中鼻裂	右视神经、右嗅球发育不全	19^＋3周	活产，新生儿期死亡	核型(46，XY)	2014	[1]
11	眼距过宽、鼻根增宽、鼻尖缺失、正中鼻裂、腭裂	右耳皮赘及面部皮赘，下颌畸形，颅骨缺损	20周	终止妊娠	无创DNA检查低风险	2021	[13]
12	眼距增宽、鼻根增宽、鼻尖缺失、正中鼻裂	双侧侧脑室增宽，双眼发育不良，右足内翻	18周	终止妊娠	核型(46，XX)	2024	[2]
13	眼距增宽、鼻根增宽、鼻尖缺失、正中鼻裂、轻微唇裂	肢体异常，脑积水，胼胝体发育不良，室间隔缺损	20周	终止妊娠	核型(46，XY)	2024	[5]
14	眼距增宽、鼻根增宽、鼻尖缺失、正中鼻裂	无	25^＋2周	终止妊娠	无创DNA检查低风险	2026	本例

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