3-M syndrome - a primordial short stature disorder with novel CUL7 mutation in two Indian patients.
J Pediatr Endocrinol Metab
; 35(3): 399-403, 2022 Mar 28.
Article
em En
| MEDLINE
| ID: mdl-34674409
ABSTRACT
OBJECTIVE:
To evaluate the cause of short stature in children. CASE PRESENTATION Two children with suspected skeletal dysplasia and short stature were evaluated.CONCLUSIONS:
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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Nanismo
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article