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1
Hemifacial microsomia with pulmonary hypoplasia.半侧颜面短小畸形伴肺发育不全。
BMJ Case Rep. 2010 May 16;2010:bcr0420091759. doi: 10.1136/bcr.04.2009.1759.
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Microtia: a microform of hemifacial microsomia.小耳畸形：半侧颜面短小畸形的一种微小形式。
Plast Reconstr Surg. 1985 Dec;76(6):859-65.
4
Thrombophilia gene mutations in oculoauriculovertebral spectrum.眼耳脊椎综合征中的血栓形成倾向基因突变
Genet Couns. 2012;23(1):65-72.
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Genetic aspects of hemifacial microsomia.半侧颜面短小畸形的遗传学方面
Hum Genet. 1983;64(3):291-6. doi: 10.1007/BF00279415.
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An association between hemifacial microsomia and facial clefting.半侧颜面短小畸形与面部裂隙之间的关联。
J Oral Maxillofac Surg. 2005 Mar;63(3):330-4. doi: 10.1016/j.joms.2004.10.006.
7
Ipsilateral hemifacial microsomia with dextrocardia and pulmonary hypoplasia: A case report.伴有右位心和肺发育不全的同侧半侧颜面短小畸形：一例报告
World J Clin Cases. 2022 Mar 26;10(9):2948-2953. doi: 10.12998/wjcc.v10.i9.2948.
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Hemifacial microsomia and the branchio-oto-renal syndrome.
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Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome.半侧颜面短小畸形：复杂畸形综合征遗传基础研究进展
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Hemifacial microsomia and abnormal chromosome 22.半侧颜面短小畸形与22号染色体异常
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本文引用的文献

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Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Collins syndrome.眼-耳-脊椎综合征和特雷彻-柯林斯综合征患者TCOF1基因的突变及新的多态性变化。
Clin Dysmorphol. 2007 Oct;16(4):261-7. doi: 10.1097/MCD.0b013e3281c108d2.
2
Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?常染色体显性遗传性小耳畸形和眼裂：一种新综合征还是眼-耳-脊椎谱系的扩展？
Am J Med Genet A. 2005 May 1;134(4):359-62. doi: 10.1002/ajmg.a.30638.
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Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach.糖尿病母亲的婴儿患眼-耳-脊椎综合征的风险增加：基于病例和病例对照的研究方法。
J Pediatr. 2002 Nov;141(5):611-7. doi: 10.1067/mpd.2002.128891.
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Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene.汤姆斯-布罗克斯综合征与扩展性半侧颜面短小畸形：8例患者回顾及SALL1基因突变“热点”的进一步证据
Genet Med. 2001 Jul-Aug;3(4):310-3. doi: 10.1097/00125817-200107000-00007.
5
Pulmonary agenesis: a predictor of ipsilateral malformations.肺不发育：同侧畸形的一个预测指标。
Am J Med Genet. 1997 Jun 27;70(4):391-8. doi: 10.1002/(sici)1096-8628(19970627)70:4<391::aid-ajmg11>3.0.co;2-c.
6
Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: complex defect of blastogenesis?患有纳热尔肢体颜面发育不全表现的儿童，以及与MURCS、VACTERL和肺发育不全相关联：胚细胞发生的复杂缺陷？
Am J Med Genet. 1996 Mar 1;62(1):1-5. doi: 10.1002/(SICI)1096-8628(19960301)62:1<1::AID-AJMG1>3.0.CO;2-1.
7
Goldenhar syndrome and hemifacial microsomia: observations on three patients.戈尔登哈综合征与半侧颜面短小畸形：三例患者观察报告
Eur J Pediatr. 1980 May;133(3):287-92. doi: 10.1007/BF00496092.
8
Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia.7号染色体三体嵌合体与伴有单侧桡骨发育不全的Goldenhar综合征表现
J Craniofac Genet Dev Biol. 1981;1(1):49-55.
9
The first and second branchial arch syndrome.第一、二鳃弓综合征
Plast Reconstr Surg. 1965 Nov;36(5):485-508. doi: 10.1097/00006534-196511000-00001.
10
On hemifacial microsomia. The first and second branchial arch syndrome.关于半侧颜面短小畸形。第一、二鳃弓综合征。
Plast Reconstr Surg. 1973 Mar;51(3):268-79.

半侧颜面短小畸形伴肺发育不全。

Hemifacial microsomia with pulmonary hypoplasia.

作者信息

Panigrahi Inusha, Das Rashmi Ranjan, Marwaha Ram Kumar

机构信息

PGIMER, Pediatrics, APC, Chandigarh, India.

出版信息

BMJ Case Rep. 2010 May 16;2010:bcr0420091759. doi: 10.1136/bcr.04.2009.1759.

DOI:10.1136/bcr.04.2009.1759
PMID:22750194
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3047013/
Abstract

Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate. HFM is characterised by facial asymmetry, microtia, preauricular tags, macrostomia and cardiac defects. The majority of cases are sporadic, although autosomal dominant and recessive modes of inheritance have been reported. Here, the case of an 11-month-old boy with HFM and pulmonary hypoplasia, which is a rare association, is described. Pulmonary hypoplasia was detected during investigation of the patient for associated anomalies. He is currently on follow-up in the genetic clinic.

摘要

半侧颜面短小畸形（HFM）是仅次于唇腭裂的第二常见面部畸形。HFM的特征为面部不对称、小耳畸形、耳前赘生物、大口畸形和心脏缺陷。尽管有常染色体显性和隐性遗传模式的报道，但大多数病例为散发性。本文描述了一名11个月大患有HFM并伴有肺发育不全（一种罕见关联情况）的男童病例。在对该患者进行相关异常情况检查时发现了肺发育不全。他目前正在遗传门诊接受随访。