Clinical case of acromicric dysplasia syndrome (ACMICD-syndrome)

Purpose: to study the features of the clinical, phenotypic status and molecular genetic characteristics of a child with Acromicric dysplasia syndrome (ACMICD syndrome). Methods: 1y.o. girl, clinical, genealogical analysis, exome sequencing, Sanger sequencing. Results: a child from 1st pregnancy/childbirth in 37 weeks, by caesarean section. Birth weight 1934g, height 41cm. Apgar 7/8. Development: delay in motor and physical development. Phenotypе: height 64cm, weight 5930g. Dolicho-microcephaly (hc 39,5cm), dysplastic ears, clear eyebrow line, long eyelashes, small nose with nostrils open forward, elongated filter, thin upper lip, gothic palate, short neck, shortening of the proximal part upper and lower limbs, brachydactyly of the hands and feet, stiffness of the ankle and elbow joints. Unilateral Divergent strabismus. Muscle hypotonia. Tendon reflexes are normal. Babinskiy is positive. Motordelay: not sitting, not crawling, no support, no independent walk. Delayed mental, speech development. Family history: negative. Karyotype: 46,XX (normal). Exome sequencing (proband): pathological variant - the nucleotide substitution chr15:48425859C>T, FBN1 gene, in the heterozygous state. Of Sanger sequencing: variant the nucleotide substitution chr15:48425859C>T, FBN1 gene - confirmed in the proband, found in mother, absent from father. Conclusions and discussions: the detected mutation in the gene FBN1 is associated with Acromicric dysplasia syndrome. ACMICD - syndrome is rare. The presented clinical case in this pedigree was revealed for the first time. Characteristic phenotypic features are described. Given the absence of clinical manifestations of the syndrome in the mother and the presence of a mutation, one can assume a low penetrance of the pathological gene.
Keywords: 1y.o. girl, clinical, genealogical analysis, exome sequencing, Sanger sequencing.