Oculo-auriculo-vertebral (OAV) spectrum summarizes a continuum of ocular, auricular, and vertebral anomalies. Goldenhar syndrome is a variant of this spectrum and is characterized by pre-auricular skin tags, microtia, facial asymmetry, ocular abnormalities, and vertebral anomalies of different sizes and shapes. Most cases are thought to be sporadic. However, a few families were reported to have...

INTRODUCTION Aplasia cutis congenita (ACC), is a rare anomaly presenting with a solitary scalp lesion of skin abrasion. Lesions can be multiple and on different surfaces of the body but are mostly seen on the scalp (%70) as a solitary lesion. As it is a rare disease, we aimed to describe our case with ACC. CASE REPORT Our case was a newborn infant with a large full thickness skin and skull de...

Craniofacial anomalies account for approximately one-third of all birth defects and are a significant cause of infant mortality. Since the majority of the bones, cartilage and connective tissues that comprise the head and face are derived from a multipotent migratory progenitor cell population called the neural crest, craniofacial disorders are typically attributed to defects in neural crest ce...

OBJECTIVES Substance abuse in pregnancy remains a major public health problem. Fetal teratogenicity results from the effect of these substances during fetal development, particularly when used in combination. This review will focus on and attempt to clarify the existing literature regarding the association of substance abuse on the development of congenital anomalies and the long-term implicati...

BACKGROUND Diphallus is a rare anomaly and accompanying anomalies vary from bifid scrotum, bladder exstrophy, imperforate anus and colo-rectal anomaly such as duplication, and other associated anomalies. CASE PRESENTATION A 2-day old infant is reported with imperforate anus and complete duplication of recto-sigmoid colon, rectal pouch, doubling of the genitalia with completely formed penis (d...

THE YOUNG INFANT with cyanotic congenital cardiac disease presents an acute and difficult diagnostic problem. The anomalies responsible for eyanosis in some such infants are now curable surgically while, on the other hand, there remains a group of eyanotic newborn infants in whom the congenital cardiac anomalies are so complex that no surgical procedures for their correction have yet been devis...

Isolated absence of the ductus arteriosus is extremely rare condition although the ductus arteriosus may be hypoplastic or aplastic in association with other aortic arch anomalies. Authors described a case of isolated agenesis of the ductus arteriosus documented by postmortem examination of a newborn infant who died of pneumonia following operation for a large omphalocele. The heart showed vent...

BACKGROUND AND OBJECTIVES Temporal trends in mortality from congenital heart disease (CHD) vary among regions. It is therefore necessary to study this problem in each country. In Mexico, congenital anomalies were responsible for 24% of infant mortality in 2013 and CHD represented 55% of total deaths from congenital anomalies among children under 1 year of age. The objectives of this study were ...

Childhood blindness has an adverse effect on growth, development, social, and economic opportunities. Severe visual impairment (SVI) and blindness in infants must be detected as early as possible to initiate immediate treatment to prevent deep amblyopia. Although difficult, measurement of visual acuity of an infant is possible. The causes of SVI and blindness may be prenatal, perinatal, and pos...

A review of recent literature in pediatrics, pediatric orthopedics, and general orthopedics revealed a lack of information on pediatric orthopedic assessment of the newborn and infant. This paper presents a description of a 3-to-5 minute physical examination intended to detect congenital anomalies of the musculo-skeletal system, or to reassure the concerned parents that their offspring is healt...