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软骨毛发发育不全(一种罕见的侏儒症形式)的妊娠结局

Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism.

作者信息

Thavarajah Harshithaa, Berndl Anne

机构信息

University of Queensland, Brisbane, QLD, Australia.

Sunnybrook Health Sciences Centre, Toronto, ON, Canada; Department of Obstetrics and Gynecology, University of Toronto, Toronto, ON, Canada.

出版信息

Case Rep Obstet Gynecol. 2017;2017:4737818. doi: 10.1155/2017/4737818. Epub 2017 Jan 31.

DOI:10.1155/2017/4737818
PMID:28251002
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5306987/
Abstract

. This case report discusses the pregnancy outcome of a patient with cartilage-hair hypoplasia, a rare form of dwarfism, and multiple previous orthopedic surgeries. Literature on pregnancy outcomes in patients with cartilage-hair hypoplasia is limited. . A 32-year-old patient with cartilage-hair hypoplasia presented at 12 weeks' gestation to the high-risk obstetrics clinic for care. Preterm labor resulted in cesarean delivery at 34 weeks' gestation with general anesthetic. Breastfeeding was stopped at 6 weeks due to neonatal complications. . Pregnancy and delivery were uncomplicated. A multidisciplinary approach allowed for effective management during pregnancy and postnatal care. This is the first known documented case of prenatal care, delivery, and breastfeeding in a woman with this rare disorder.

摘要

本病例报告讨论了一名患有软骨毛发发育不全(一种罕见的侏儒症形式)且曾多次接受骨科手术的患者的妊娠结局。关于软骨毛发发育不全患者妊娠结局的文献有限。一名32岁患有软骨毛发发育不全的患者在妊娠12周时到高危产科诊所就诊。早产导致在妊娠34周时进行剖宫产,采用全身麻醉。由于新生儿并发症,母乳喂养在6周时停止。妊娠和分娩过程无并发症。多学科方法使孕期和产后护理得到有效管理。这是已知首例记录在案的患有这种罕见疾病的女性的产前护理、分娩及母乳喂养情况。

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引用本文的文献

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Orphanet J Rare Dis. 2020 Nov 19;15(1):326. doi: 10.1186/s13023-020-01614-2.
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Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia - high rate of HPV positivity.19 例软骨毛发发育不全成年女性的妇科评估 - HPV 阳性率高。
Orphanet J Rare Dis. 2018 Nov 16;13(1):207. doi: 10.1186/s13023-018-0945-9.

本文引用的文献

1
Canadian Consensus on Female Nutrition: Adolescence, Reproduction, Menopause, and Beyond.《加拿大女性营养共识:青春期、生殖期、更年期及之后》
J Obstet Gynaecol Can. 2016 Jun;38(6):508-554.e18. doi: 10.1016/j.jogc.2016.01.001. Epub 2016 May 14.
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Evaluation of the Child with Short Stature.身材矮小儿童的评估。
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Osteogenesis imperfecta: cesarean deliveries in identical twins.成骨不全症:同卵双胞胎的剖宫产分娩
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Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.软骨毛发发育不良的表型变异:在身材矮小但其他方面健康的儿童中,最初的临床表现为肉芽肿性皮肤炎症和严重的 T 细胞免疫缺陷。
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Approach to milk protein allergy in infants.婴儿牛奶蛋白过敏的处理方法
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7
Anaesthesia for Caesarean section in a patient with diastrophic dwarfism.一名患先天性脊柱骨骺发育不良性侏儒症患者的剖宫产麻醉
Int J Obstet Anesth. 2007 Apr;16(2):145-8. doi: 10.1016/j.ijoa.2006.08.012. Epub 2007 Jan 30.
8
Short stature--an independent risk factor for Cesarean delivery.身材矮小——剖宫产的一个独立危险因素。
Eur J Obstet Gynecol Reprod Biol. 2005 Jun 1;120(2):175-8. doi: 10.1016/j.ejogrb.2004.09.013.
9
Failed regional anesthesia with reduced spinal bupivacaine dosage in a parturient with achondroplasia presenting for urgent cesarean section.一名患软骨发育不全的产妇因紧急剖宫产接受脊麻时,布比卡因剂量减少但区域麻醉失败。
Int J Obstet Anesth. 2005 Apr;14(2):175-8. doi: 10.1016/j.ijoa.2004.09.007.
10
Anesthesia for an achondroplastic dwarf presenting for urgent cesarean section.为一名前来进行紧急剖宫产的软骨发育不全性侏儒实施麻醉。
Int J Obstet Anesth. 1993;2(2):96-7. doi: 10.1016/0959-289x(93)90087-x.