Rainbow Children Hospital, Road No 2, Banjara Hills, Hyderabad, India.
J Pediatr Endocrinol Metab. 2021 Oct 22;35(3):399-403. doi: 10.1515/jpem-2021-0412. Print 2022 Mar 28.
To evaluate the cause of short stature in children.
Two children with suspected skeletal dysplasia and short stature were evaluated.
The 3-M syndrome is a primordial growth disorder manifesting severe postnatal growth restriction, skeletal anomalies and prominent fleshy heels. The 3-M syndrome is a genetically heterogeneous disorder and the phenotype is similar. This is a rare autosomal recessive disorder with normal intellect. Two affected children have been identified by whole-exome sequencing. One patient harboured a compound heterozygous variant and the other was a homozygous missense variant. The genetic diagnosis helped in counselling the families and facilitated prenatal diagnosis in one (case 1) family.
评估儿童身材矮小的原因。
对两名疑似骨骼发育不良和身材矮小的儿童进行了评估。
3-M 综合征是一种原始生长障碍，表现为严重的出生后生长受限、骨骼异常和明显的肉脚。3-M 综合征是一种遗传异质性疾病，表型相似。这是一种罕见的常染色体隐性遗传疾病，智力正常。通过全外显子组测序已鉴定出两名受影响的儿童。一名患者携带复合杂合变异体，另一名患者为纯合错义变异体。遗传诊断有助于为家庭提供咨询，并为其中一个（病例 1）家庭的产前诊断提供了便利。
