A report of a rare syndrom: Alazami Syndrom

Objective: La Ribonucleoprotein 7 (LARP7) encodes a protein involved in the regulation of RNA transcription and splicing. Alazami Syndrom is caused by homozygous or compound heterozygous mutation in the LARP7 gene on chromosome 4q25. Alazami Syndrom is an autosomal recessive disorder characterized by severe growth restriction at birth, short stature, intellectual disability and recognizable dysmorphic facial features (triangular face, broad nose, wide mouth, widely spaced teeth, deeply set eyes).

Method: Case report of 2 siblings with a history of third degree consanguinity

Result: Two sisters aged 9 and 5 years are being followed up due to global developmental delay, growth retardation and intellectual disability. Both of the sisters were born at term with low birth weight. Both of them are microcephalic and have low weight-height percentiles. The first sibling had a generalized tonic-clonic seizure when she was 3 years old and her seizures were controlled with levetiracetam. EEG and cranial MRI was normal. Drooling, ulnar hypoplasia, ulnar deviation and abducens palsy detected in the second sibling. Both have speech delay, triangular shape face, broad nose, deeply set eyes and widely spaced teeth. WES was performed because karyotype, microarray and inherited panel were found to be normal. They both have homozygous c.946C>T variants in the LARP7 gene.

Conclusion: Alazami Syndrom is an autosomal recessive disorder with homozygous and compound heterozygous variants described. It is expected to increase frequency in populations with high consanguineous marriages. Genetic counseling is important for the affected families. Management should be multidisciplinary with a lifelong follow up.
Keywords: primordial dwarfism, developmental delay, facial dysmorphism, genetic syndrom, speech delay