We read with interest an editorial article recently published by Dr. Anna Rajab and Dr. Mohsen ElHazmi on the genetic services provided by Gulf countries.1 They have presented a summary report on the prevalence and trends, and possible influencing factors of genetic disorders and congenital anomalies in the region compared to some western countries. They have reported the essential structure of...

BACKGROUND Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g., in the skeletal and cardiovascular systems, but the overall incidence of anomalies is unknown. In this retrospective register-based total population study conducted in Finland, the congenital anomalies in NF1 we...

Partial muscular inter-ventricular septal defect (VSD) or Pacman heart is a rare congenital or occasionally acquired anomaly. Concurrent Pacman heart and Shone's complex are extremely rare and have never been reported until now. We described a 37-year-old male patient with congenital Pacman heart, flail mitral valve (FMV), and a history of multiple congenital anomalies, including subvalvular ao...

In analysing and investigating 66 consecutive cases of congenital scoliosis, we aimed to evaluate the clinical pattern of presentation, identify the underlying vertebral anomaly causing the deformity, and determine the frequency of associated intraspinal anomalies, cardiovascular anomalies and genito-urinary anomalies. Associated general anomalies were seen in 44% of the cases. The commonest pa...

Congenital renal fusion anomalies, characterized by either partial or complete fusion of the two kidneys, are represented by horseshoe kidney, crossed renal ectopia with fusion and fused pelvic cake kidney. Though these anomalies may remain asymptomatic, in certain cases they may be associated with pathological conditions like nephrolithiasis, hydronephrosis, recurrent urinary tract infections,...

Since newborns are obligatory nasal breathers, upper respiratory tract problems may sometimes be life threatening. The most common pathology causing dyspnea and stridor in newborns is laryngomalacia. Nasal cavity pathologies that risk the neonatal airway are more rarely met. These anomalies may be seen either as solitary anomalies or as a part of a syndrome. While choanal atresia is one of the ...