ABSTRACT
Partial trisomy 4q is a rare chromosomal abnormality which results in variable clinical features, often including growth and developmental delay, mental retardation and dysmorphic features. We herein report a newborn with the diagnosis of partial trisomy 4q with Hirschsprung's disease who was monitored in neonatal intensive care unit. This is the first report of partial trisomy 4q27q35 with accompanying Hirschsprung's disease.
Subject(s)
Abnormalities, Multiple/pathology , Hirschsprung Disease/pathology , Trisomy/pathology , Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 4/genetics , Female , Hirschsprung Disease/genetics , Humans , Infant, Newborn , Syndrome , Translocation, Genetic , Trisomy/geneticsSubject(s)
Abnormalities, Multiple/diagnostic imaging , Congenital Abnormalities/diagnostic imaging , Ductus Arteriosus, Patent/diagnostic imaging , Femur/abnormalities , Kidney Diseases/congenital , Kidney/abnormalities , Pierre Robin Syndrome/diagnostic imaging , Adult , Diagnosis, Differential , Female , Femur/diagnostic imaging , Humans , Infant, Newborn , Kidney/diagnostic imaging , Kidney Diseases/diagnostic imaging , Male , Pregnancy , Pregnancy in Diabetics , Radiography , UltrasonographyABSTRACT
Ulnar dimelia or commonly called mirror hand is a rare congenital anomaly of upper extremity characterized by duplication of ulna, absence of the radius with symmetrical polydactyly. This anomaly may be associated with shoulder dislocation, fibular dimelia, idiopathic scoliosis, cirrhosis, pyloric hypertrophy or polycystic kidney. We report a new case of this rare congenital anomaly which was not associated with any other malformation.