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Abstract：
A 1-year-old girl from an underserved community presented with irritability, pain, and delayed motor skills. Our genetics outreach program facilitated the diagnosis of Ehlers-Danlos syndrome masquerading as developmental delay after noting hyperextensible skin. Diagnosis for this family allows for state-of-the-art cardiac monitoring and appropriate symptomatic treatment for this rare disease.
摘要：
一个来自服务不足社区的1岁女孩表现出烦躁，疼痛,和延迟运动技能。我们的遗传学外展计划促进了Ehlers-Danlos综合征的诊断，该综合征在注意到过度伸展的皮肤后伪装成发育迟缓。该家族的诊断允许对这种罕见疾病进行最先进的心脏监测和适当的对症治疗。
