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股骨发育不全-特殊面容综合征

The femoral hypoplasia-unusual facies syndrome.

作者信息

Burn J, Winter R M, Baraitser M, Hall C M, Fixsen J

出版信息

J Med Genet. 1984 Oct;21(5):331-40. doi: 10.1136/jmg.21.5.331.

DOI:10.1136/jmg.21.5.331
PMID:6502648
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049313/
Abstract

A series of thirteen persons with bilateral femoral hypoplasia are presented. Six of these had facial features compatible with a diagnosis of femoral hypoplasia-unusual facies syndrome. One was attributable to severe fetal constraint secondary to oligohydramnios, three were associated with maternal diabetes, and two were idiopathic. All thirteen cases were sporadic.

摘要

本文报告了13例双侧股骨发育不全的患者。其中6例具有与股骨发育不全-特殊面容综合征诊断相符的面部特征。1例归因于羊水过少继发的严重胎儿受压，3例与母亲糖尿病有关，2例病因不明。所有13例均为散发病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/a80cf42e28e6/jmedgene00103-0017-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/a1bef708009c/jmedgene00103-0012-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/d3aabbb49814/jmedgene00103-0012-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/cd6735a180b2/jmedgene00103-0013-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/2000389cbf2b/jmedgene00103-0013-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/121c9820f5e4/jmedgene00103-0014-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/0ce5f7d54535/jmedgene00103-0014-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/8ab14ed48cd6/jmedgene00103-0015-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/36da76e744c9/jmedgene00103-0016-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/a80cf42e28e6/jmedgene00103-0017-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/a1bef708009c/jmedgene00103-0012-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/d3aabbb49814/jmedgene00103-0012-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/cd6735a180b2/jmedgene00103-0013-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/2000389cbf2b/jmedgene00103-0013-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/121c9820f5e4/jmedgene00103-0014-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/0ce5f7d54535/jmedgene00103-0014-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/8ab14ed48cd6/jmedgene00103-0015-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/36da76e744c9/jmedgene00103-0016-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3374/1049313/a80cf42e28e6/jmedgene00103-0017-a.jpg

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The Clinical Manifestations of Femoral-Facial Syndrome in an Orthopaedic Patient.一名骨科患者的股面综合征临床表现
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Femoral-facial syndrome: Report of 2 fetal cases.

本文引用的文献

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Dominant inheritance of femoral hypoplasia-unusual facies syndrome.股骨发育不全-特殊面容综合征的显性遗传
Clin Genet. 1980 Apr;17(4):255-8. doi: 10.1111/j.1399-0004.1980.tb00144.x.
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The femoral hypoplasia-unusual facies syndrome: a genetic entity?股骨发育不全-特殊面容综合征：一种遗传实体？
Clin Genet. 1981 Oct;20(4):267-75. doi: 10.1111/j.1399-0004.1981.tb01032.x.
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Bilateral femoral dysgenesis with micrognathia, cleft palate, anomalies of the spine and pelvis, and foot deformities. Clinical and radiological findings.
股面综合征：2例胎儿病例报告。
Radiol Case Rep. 2019 Aug 14;14(10):1276-1282. doi: 10.1016/j.radcr.2019.08.001. eCollection 2019 Oct.
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Femoral Hypoplasia with Unusual Facies Syndrome.股骨发育不全伴特殊面容综合征
J Clin Diagn Res. 2017 Aug;11(8):SD03-SD04. doi: 10.7860/JCDR/2017/27632.10481. Epub 2017 Aug 1.
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Femoral-facial syndrome in an infant of a diabetic mother.糖尿病母亲所生婴儿的股面综合征
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Anesthetic experience in a child with femoral hypoplasia-unusual facies syndrome.一名患有股骨发育不全-特殊面容综合征儿童的麻醉经历。
Korean J Anesthesiol. 2013 Dec;65(6 Suppl):S89-90. doi: 10.4097/kjae.2013.65.6S.S89.
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Additional malformations in femoral hypoplasia: unusual facies syndrome.股骨发育不全合并其他畸形：特殊面容综合征。
Indian J Pediatr. 2002 Jun;69(6):531-2. doi: 10.1007/BF02722660.
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Grebe syndrome: a second case with extremely severe manifestations.Grebe综合征：第二例具有极其严重临床表现的病例。
J Med Genet. 1997 Dec;34(12):1038. doi: 10.1136/jmg.34.12.1038.
9
Lethal femoral-facial syndrome: a case with unusual manifestations.致死性股骨面部综合征：一例具有不寻常表现的病例。
J Med Genet. 1997 Jun;34(6):518-9. doi: 10.1136/jmg.34.6.518.
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Teratogenic inborn errors of metabolism.致畸性先天性代谢缺陷。
Postgrad Med J. 1986 Feb;62(724):125-9. doi: 10.1136/pgmj.62.724.125.
Helv Paediatr Acta. 1981 Nov;36(5):473-82.
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Proximal femoral focal deficiency associated with the Robin anomalad.近端股骨局灶性缺损合并罗宾序列征。
J Med Genet. 1980 Oct;17(5):390-2. doi: 10.1136/jmg.17.5.390.
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Case report: femoral hypoplasia - unusual facies syndrome.病例报告：股骨发育不全 - 特殊面容综合征。
Aust Paediatr J. 1982 Mar;18(1):63-6. doi: 10.1111/j.1440-1754.1982.tb01986.x.
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Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers.糖尿病母亲婴儿的股骨发育不全-特殊面容综合征
J Pediatr. 1983 Jun;102(6):866-72. doi: 10.1016/s0022-3476(83)80013-4.
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Bilateral femoral dysgenesis.双侧股骨发育不全。
Clin Pediatr (Phila). 1970 Nov;9(11):668-74. doi: 10.1177/000992287000901114.
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Is insulin a teratogen?胰岛素是一种致畸剂吗？
Teratology. 1972 Apr;5(2):129-35. doi: 10.1002/tera.1420050202.
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Femoral hypoplasia--unusual facies syndrome.股骨发育不全-特殊面容综合征
J Pediatr. 1975 Jan;86(1):107-11. doi: 10.1016/s0022-3476(75)80718-9.
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Femoral hypoplasia-unusual facies syndrome, from another viewpoint.股骨发育不全-特殊面容综合征，从另一个角度来看。
Eur J Pediatr. 1978 May 22;128(1):1-5. doi: 10.1007/BF00496920.