Mulchandani-Bhoj-Conlin综合征个案报道

Mulchandani-Bhoj-Conlin Syndrome Case Report

Mulchandani-Bhoj-Conlin综合征(Mulchandani-Bhoj-Conlin syndrome, MBCS)是一种印记基因功能缺陷相关性遗传疾病。MBCS患者临床主要表现为胎儿宫内发育迟缓、发育迟滞、重度身材矮小伴头围减小、喂养困难(大部分患者在婴儿期或幼儿期需要鼻饲治疗)、第五指屈指畸形、肌张力减退、重度运动迟缓等。此外,MBCS患者对生长激素治疗反映良好,治疗后可出现线性生长加速。MBCS发病率不详。MBCS为常染色体显性遗传,通常由染色体20q11-q13区域母源单亲二体(Uniparental disomy, UPD)或该区域父源等位基因发生致病的缺失变异所致(Mulchandani (2016) Genet Med 18,309, Hjortshoj (2020) Clin Genet 97,902)。

Mulchandani-Bhoj-Conlin syndrome (MBCS) is a genetic disease associated with functional defects in imprinted genes. The clinical manifestations of MBCS patients are mainly fetal intrauterine devel-opmental delay, developmental delay, severe short stature with reduced head circumference, feed-ing difficulties (most patients require nasal feeding treatment in infancy or early childhood), fifth finger flexion deformity, hypotonia, and severe motor delay. In addition, MBCS patients have a good response to growth hormone therapy and may experience linear growth acceleration after treat-ment. The incidence rate of MBCS is unknown. MBCS is an autosomal dominant inheritance, usually caused by pathogenic deletion mutations in the maternal uniparental disomy (UPD) or paternal al-lele of chromosome 20q11-q13 (Mulchandani (2016) Genet Med 18,309 Hjobshortj (2020) Clin Genet 97,902).