RESUMEN
This paper presents a rare case of fetal hydrops detected at just 23 weeks of gestation in a 22-year-old woman's first pregnancy. The fetal ultrasound revealed severe skeletal anomalies, craniofacial deformities, and thoracic abnormalities, suggesting a complex and severe skeletal dysplasia, potentially type IA Achondrogenesis-a lethal autosomal recessive condition marked by ossification delay. This case highlights the significance of advanced genetic testing, such as next-generation sequencing (NGS) and whole-genome sequencing (WGS), in diagnosing and understanding skeletal dysplasias. Skeletal dysplasias represent a group of genetic disorders that affect osteogenesis. The prevalence of this condition is 1 in 4000 births. Sadly, 25% of affected infants are stillborn, and around 30% do not survive the neonatal period. There is a wide range of rare skeletal dysplasias, each with its own specific recurrence risk, dysmorphic expression, and implications for neonatal survival and quality of life. When skeletal dysplasia is incidentally discovered during routine ultrasound screening in a pregnancy not known to be at risk of a specific syndrome, a systematic examination of the limbs, head, thorax, and spine is necessary to reach the correct diagnosis. Prenatal diagnosis of skeletal dysplasia is crucial for providing accurate counselling to future parents and facilitating the proper management of affected pregnancies. An accurate diagnosis can be a real challenge due to the wide spectrum of clinical presentations of skeletal dysplasia but advances in imaging technologies and molecular genetics have improved accuracy. Additionally, some of these skeletal dysplasias may present clinical overlap, making it especially difficult to distinguish. After the 11th revision of genetic skeletal disorder nosology, there are 771 entities associated with 552 gene mutations. The most common types of skeletal dysplasia are thanatophoric dysplasia, osteogenesis imperfect, achondroplasia, achondrogenesis, and asphyxiating thoracic dystrophy.
RESUMEN
A Mexican 24-year-old male patient was referred to our hospital due to increased left retroauricular volume with skin fistulisation, resembling an infection by the uncommon worm Lagochilascaris minor. The patient was submitted to lateral skull base surgery. No adult worms or eggs were observed during light and scanning electron microscopy analysis, as well as by histopathologic examination of the small piece of removed tissue, only L3 stage larvae of Lagochilascaris spp. were identified. Polymerase chain reaction-sequencing assays were performed using primers for the mitochondrial 12S and the nuclear 18S rDNA gene. DNA of some L minor adults, previously identified, were used as control. The molecular analysis identified the worm as L minor. According to previous reports, lagochilascariasis is a complicated infection that requires an interdisciplinary management by different clinical specialists. This is the first time that 12S and 18S rDNA genes are reported as molecular markers for diagnosis of L minor.
