Affiliation:
1. Veltischev Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University
Abstract
As DNA sequencing techniques have been used more widely in clinical practice, there have been reports of a combination of hereditary diseases in a single patient. Cases of combining diseases with similar clinical symptoms present a particular difficulty for diagnosis. We observe a child who has been identified to have a combination of autosomal dominant diseases associated with connective tissue involvement — Marfan and Stickler type 1 syndromes. Common symptoms of both diseases were as follows: marfanoid habitus, arachnodactyly, kyphoscoliosis, chest deformity, involvement in the process of joints (hypermobile syndrome) and eyes. Marfan syndrome was evidenced by dissociation of mass-growth parameters at birth, tallstature, “Gothic” palate, crowded teeth, aortic dilation at the level of Valsalva sinuses and its ascending part. Type 1 Stickler syndrome was indicated by high-grade myopia, degenerative vitreous changes requiring vitrectomy, flat face, mandibular micrognathia, latent cleft of the soft and hard palate, grade 1 bilateral conductive hearing loss, mild cognitive failure. The diagnosis of both diseases was confirmed by the detection of de novo heterozygous mutations in the FBN1 gene (c.5060_5061 delGCinvAA, p. Cys1687) and COL2A1 gene (c.4074+1G>A). Establishing a final diagnosis is of great importance for predicting the course of the disease and genetic counseling of the proband and their relatives.
Publisher
The National Academy of Pediatric Science and Innovation
Subject
Pediatrics, Perinatology and Child Health