Trichorhinopharyngeal Syndrome Type 1 and Trisomy 21: A Patient with 2 Genetic Mutations

Trichorhinophalangeal syndrome (TRPS) Type I is a rare, autosomal dominant genetic syndrome with a spectrum of characteristics affecting hair, craniofacial, and skeletal development. It was first described in 1966 by Giedion based on three main features of sparse hair, bulbous nasal tip, and short deformed fingers. TRPS Type I is generally associated with mutations or microdeletions in the TRPS1 gene on chromosome 8q23.3, with translocations on this chromosomal arm also reported. The prevalence of TRPS Type I is unknown due to varying and subtle presenting features. Approximately 100 cases of TRPS Type I and III and 100 cases of TRPS Type II have been described and published up until 2017. We describe the neonatal course of an infant with TRPS Type I and Trisomy 21, two chromosomal anomalies prenatally diagnosed. To our knowledge, this is the first report of TRPS with Trisomy 21.

A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation

DeSanto-Shinawi syndrome is a rare genetic condition caused by loss-of-function mutation in WAC. It is characterized by dysmorphic features, intellectual disability, and behavioral abnormalities. In this case report, we describe the clinical features and genotype of a patient with a novel mutation 1346C > A in WAC. This patient’s dysmorphic features include a prominent forehead, bulbous nasal tip, macroglossia, deep-set eyes, and malar hypoplasia. This patient also showed signs of intellectual disability and behavioral abnormalities such as night terrors. These findings are consistent with those described in earlier reports. Here, we report new findings of epilepsy and recurrent skin infections which had not been reported in prior studies.

Monozygotic Twins with 17q21.31 Microdeletion Syndrome

Chromosome 17q21.31 microdeletion syndrome is a genomic disorder caused by a recurrent 600 kb long deletion. The deletion affects the region of a common inversion present in about 20% of Europeans. The inversion is associated with the H2 haplotype carrying additional low-copy repeats susceptible to non-allelic homologous recombination, and this haplotype is prone to deletion. No instances of 17q21.31 deletions inherited from an affected parent have been reported, and the deletions always affected a parental chromosome with the H2 haplotype. The syndrome is characterized clinically by intellectual disability, hypotonia, friendly behavior and specific facial dysmorphism with long face, large tubular or pear-shaped nose and bulbous nasal tip. We present monozygotic twin sisters showing the typical clinical picture of the syndrome. The phenotype of the sisters was very similar, with a slightly more severe presentation in Twin B. The 17q21.31 microdeletion was confirmed in both patients but in neither of their parents. Potential copy number differences between the genomes of the twins were subsequently searched using high-resolution single nucleotide polymorphism (SNP) and comparative genome hybridisation (CGH) arrays. However, these analyses identified no additional aberrations or genomic differences that could potentially be responsible for the subtle phenotypic differences. These could possibly be related to the more severe perinatal history of Twin B, or to the variable expressivity of the disorder. In accord with the expectations, one of the parents (the mother) was shown to carry the H2 haplotype, and the maternal allele of chromosome 17q21.31 was missing in the twins.

External rhinoplasty in post rhinoscleromatous bulbous Nose

A 22-year-old male presented to outpatient department with the complaint of widened nasal tip. He was a known case of rhinoscleroma diagnosed five years ago and had taken treatment for the same for one year. He has been asymptomatic since then. On clinical examination the patient had widening of the dorsum of the nose with a bulbous nasal tip. Anterior rhinoscopy was within normal limits. Rhinoplasty was done and the patient had an improvement in his cosmetic appearance. This is one of unique cases of rhinoplasty on bulbous tip due to rhinoscleroma. DOI: http://dx.doi.org/10.3329/bjo.v19i1.11604 Bangladesh J Otorhinolaryngol 2013; 19(1): 69-72