Robinow综合征及其对生长激素治疗的反应:1例报告及文献复习。

IF 0.6 Q4 PEDIATRICS

Boletín médico del Hospital Infantil de México Pub Date : 2023-07-12 DOI:10.24875/BMHIM.22000101

Mariana Goitia-Cárdenas, Coztli O Azotla-Vilchis, América L Miranda-Lora

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引用次数: 0

摘要

背景:Robinow综合征是一种罕见的疾病，以身材矮小、特征性表型异常和智力完整为主。病例报告:我们提出一个13岁零1个月的男性病例，他在3岁时因身材矮小而前来就诊。此外，患者表现为颅面畸形、先天性心脏病和生长激素缺乏。根据家族史，母亲表现出相同的表型。遗传研究发现了一种未报道的WNT5A基因变体。结论:患者在4岁时开始使用0.7 U/kg/周剂量的生长激素治疗，效果良好，使其身高从< 1百分位增加到第44百分位。

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Robinow syndrome and its response to growth hormone treatment: a case report and review of the literature.

Background: Robinow syndrome is a rare disease with short stature, characteristic phenotypical abnormalities, and intellectual integrity in most cases.

Case report: We present the case of a 13-year and one-month-old male who came for medical consultation at 3 years of age due to short stature. Additionally, the patient showed craniofacial dysmorphia, congenital heart disease, and growth hormone deficiency. As per family history, the mother presented the same phenotype. The genetic study identified an unreported variant of the WNT5A gene.

Conclusions: The patient initiated growth hormone treatment at a dose of 0.7 U/kg/week at 4 years of age with favorable results, increasing his height from the < 1^st percentile to the 44^th percentile.

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来源期刊

Boletín médico del Hospital Infantil de México PEDIATRICS-

CiteScore

1.60

自引率

0.00%

发文量

审稿时长

20 weeks

期刊介绍： The Boletín Médico del Hospital Infantil de México is a bimonthly publication edited by the Hospital Infantil de México Federico Gómez. It receives unpublished manuscripts, in English or Spanish, relating to paediatrics in the following areas: biomedicine, clinical, public health, clinical epidemology, health education and clinical ethics. Articles can be original research articles, in-depth or systematic reviews, clinical cases, clinical-pathological cases, articles about public health, letters to the editor or editorials (by invitation).