Journal of pediatric endocrinology & metabolism : JPEM · 2021
3-M syndrome - a primordial short stature disorder with novel CUL7 mutation in two Indian patients.
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Akella Radha Rama Devi
Аннотация
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.
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.