Our patient was suspected to have LMS based on the typical facial features, progressive skeletal Conclusion Since then eleven additional cases have been identified. His diagnosis was Camurati Engelmann's disease. (Braham, 1969) He reported an 4 years old male child with progeria, mental retardation, hyperostosis of ribs and mandible, diaphyseal dysplasia and enamel hypoplasia. Lenz-Majewski syndrome was first described by RL Braham, a former dental resident at Winnipeg Children Hospital, Canada. The mutation was predicted to be pathogenic using Discussion Complete gene sequencing of the PTDSS1 gene revealed heterozygosity for c.785G > T (p.R262I), a novel mutation in exon 7 (see Fig. 6). Complete gene sequencing of TCIRG1, LMNA, ATP6V0A2 genes did not reveal any mutation. Microarray analysis for the affected child and his parents using Cyto 2.7M chip on Affymetrix platform did not reveal any pathogenic copy number variants. Karyotype from peripheral blood lymphocytes was normal 46, XY.

His motor milestones were as follows: head holding at 2 yrs, sitting Genetic diagnosis Antenatally his mother had pregnancy induced hypertension.

His birth weight was 2480 gms and was noticed to have facial dysmorphism and lax skin. Developmental delay was noticed 2–3 months after birth. At time of his birth, paternal and maternal ages were 32 years and 30 years respectively. The proband presented as 4 years old male child (see Fig. 1) born of non-consanguineous marriage.

Majewski vbook