ESPE Abstracts

Objective: To retrospectively analyze the clinical data, laboratory examination, gene test results, diagnosis and treatment of a case of small gestational age, short stature and microcephaly in the department of Endocrinology, Genetics and Metabolism of Jiangxi Children's Hospital.

Methods: The detailed clinical symptoms and family history of the children and their families were evaluated. 2ml peripheral blood of the children and their parents were collected for whole exon sequencing, which was verified by Sanger method.

Results: The proband was male, 1 year old and 2 months old, younger than gestational age, short stature (<-2SD), microcephaly (<-2SD), the facial skin was normal, a 5 cm *5 cm scar was visible on the chest (three-wave burn), and there was no family history of genetic disease or tumor. BLM gene c.772_773delCT (from mother), c. 1289_1290insAT (from father and grandfather) and c.1296_1297insCCATAGGGCCT (from father and grandfather) heterozygous frame-shift mutations, all of which were rated as pathogenic changes by ACMG guidelines.

Conclusion: The main manifestations of Bloom syndrome in childhood are small for gestational age, microcephaly and short body, without typical facial erythema changes. It is necessary to conduct genetic testing as soon as possible to identify the cause and provide reliable genetic evidence for family reproduction.

Key words: Bloom syndrome;BLM gene mutation;Small for gestational age;Microcephaly