Víctor Michael Salinas-Torres

Unusual branchial arch, dermoepidermal and nervous system anomalies in a neonate with VACTERL-H syndrome

RESUMEN El sindrome VACTERL-H es un trastorno complejo de malformaciones congenitas que implica vertebras, ano, corazon, traquea, esofago, rinones, extremidades (del ingles limbs) e hidrocefalia. Su etiologia se ha identificado solo en algunos pacientes debido, en gran medida, a su naturaleza esporadica, asi como a su alto grado de heterogeneidad clinica. En este informe se presenta a un neonato con el sindrome VACTERL-H, al que se asocian anomalias inusuales del arco branquial, dermoepidermicas y del sistema nervioso, que se comparan con las descritas en la bibliografia medica. Segun nuestra experiencia, esta presentacion no solo amplia el conocimiento del espectro de anomalias que se puede presentar en el sindrome VACTERL-H, sino que tambien podria ser util en la identificacion de pacientes con este fenotipo heterogeneo. Palabras clave: sindrome VACTERL-H, heterogeneo, anomalias arco branquial. SUMMARY VACTERL-H syndrome is a complex disorder of congenital malformations that implies vertebrae, anus, heart, trachea, esophagus, kidneys, limbs and hydrocephalus. Its etiology has been identified in a fraction of patients largely due to their sporadic nature and its high degree of clinical heterogeneity. This report presents a newborn with VACTERL-H syndrome, associated with unusual branchial arch, dermoepidermal and nervous system anomalies, which are compared with those described in the medical literature. Based on our experience, the presentation of this case not only expands the knowledge of the spectrum of anomalies that can occur in VACTERL-H syndrome, but also can be useful in identifying patients with this heterogeneous phenotype.

Bilateral tibial hemimelia type 1 (1a and 1b) with T9 and T10 hemivertebrae: a novel association

CONTEXT Congenital absence of the tibia is a rare anomaly with an incidence of one per 1,000,000 live births. It is mostly sporadic and can be identified as an isolated disorder or as part of malformation syndromes. CASE REPORT A male child, born to unaffected and non-consanguineous parents, presented with shortening of the legs and adduction of both feet. Physical examination at six months of age showed head circumference of 44.5 cm (75th percentile), length 60 cm (< 3rd percentile), weight 7,700 g (50th percentile), shortening of the left thigh and both legs with varus foot. There were no craniofacial dysmorphisms or chest, abdominal, genital or upper-extremity anomalies. Psychomotor development was normal. His workup, including renal and cranial ultrasonography, brainstem auditory evoked potential, and ophthalmological and cardiological examinations, was normal. X-rays showed bilateral absence of the tibia with intact fibulae, distally hypoplastic left femur, and normal right femur. In addition, spinal radiographs showed hemivertebrae at T9 and T10. CONCLUSION This novel association expands the spectrum of tibial hemimelia. Moreover, this observation highlights the usefulness of this inexpensive diagnostic method (X-rays) for characterizing the great clinical and radiological variability of tibial hemimelia.