Congenital heart defects and skeletal malformation syndrome is very rare syndrome. Most of the patients had germline mutations in ABL1 gene. A 30-year-old gentleman presented with history congenital disease (ventricular septal defect) malformations which are typical CHDSKM. Patient also hemiplegia CHDSKMS. lactose intolerance since childhood. Patients were evaluated thoroughly to rule out other...

Background: Congenital hypothyroidism (CH) is a prevalent disorder, which is associated with several other congenital anomalies, especially cardiac diseases. The present study aimed to determine the prevalence of congenital heart disease (CHD) in the neonates with CH.Methods: This cross-sectional study was conducted on two groups of 79 subjects to compare the type and frequency of congenital ca...

Congenital anomalies encompass a wide range of malformations that could affect various organs and tissues in the newborn and infant population. These disorders that involve defects in or injury to a developing fetus may be a result of genetic abnormalities or mutations, alterations in the intrauterine environment, irregularities in morphogenesis, or chromosomal aberration. The outcome of these ...

BACKGROUND Dermoid sinus is an uncommon epithelial-lined fistula that may be associated with vertebral malformations. In humans, Klippel-Feil syndrome (KFS) is a rare condition characterized by congenital cervical vertebral fusion and may be associated with other developmental defects, including dermoid sinus. The present case report describes an adult Dachshund with cervical and cranial thorac...

OBJECTIVES The objectives of the study were to assess the prevalence of anxiolytic use in pregnancy, the rate of congenital malformations in neonates at in utero exposure to these agents, and the possible association of congenital malformations with the use of these drugs in pregnancy. METHOD The study was conducted as cross-sectional study. The study was performed at university departments o...

Congenital malformations frequently arise sporadically, making it difficult to determine whether or not they are genetic in aetiology, let alone which gene(s) may be involved. Nevertheless, rapid progress has been made over recent years in the localisation and identification of gene mutations in specific malformations. This review draws from Mendelian inheritance in man (Johns Hopkins Universit...

Congenital anomalies are abnormalities of prenatal origin, and their prevalence varies worldwide. The objective of this study was to determine the prevalence and spectrum of overt congenital anomalies in live born neonates in selected hospitals in the Kano metropolis of North western Nigeria, as well as the associated maternal, paternal and neonatal risk factors. A descriptive study design was ...

Congenital heart disease (CHD) is present in 0.8% of all live births and is therefore one of the most common congenital malformations (Fyler et al., 1980). The spectrum of congenital heart defects is significantly higher in fetuses than in live born infants because of their reduced viability (Tennstedt et al., 1999). The prognosis of congenital heart disease can be poor; almost one third to one...

background cutis marmorata telangiectatica congenita (cmtc) is a sporadic congenital skin vascular abnormality. significant number of patients has other congenital anomalies. case report we report a case of a preterm male newborn with cutis marmorata pattern presented on the skin of the face, right side of front of the trunk, whole back, glutei and both legs. besides, microretrognatia and asymm...

OBJECTIVE To investigate the potential impact of exposure to anti epileptic medications during the first-trimester of pregnancy on major malformations. STUDY DESIGN A retrospective cohort study comparing all pregnancies of women with and without exposure to antiepileptic medications during pregnancy was performed. A computerized database of medications dispensed from 1998 to 2008 to all women...