Inflammatory linear verrucous epidermal nevus (ILVEN) is an uncommon variant of verrucous epidermal nevus, clinically characterized by erythematous and hyperkeratotic verrucous papules with a typical linear arrangement. Most reported cases present as solitary lesions, but systematized ILVEN is rare. Epidermal nevus syndrome is a congenital disorder in which epidermal nevi are associated with abnormalities in other organ systems. However, ILVEN has been reported rarely in association with such abnormalities, including those of the skeleton. Here we report a rare case of systematized ILVEN presenting with concomitant mandibular hypoplasia.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nevus ; Nevus, Sebaceous of Jadassohn* ; Skeleton

Subaortic left brachiocephalic vein is a rare congenital anomaly that is sometimes found in the normal population. We report here on a case of subaortic left brachiocephalic vein that was detected incidentally by performing contrast transesophageal echocardiography (TEE) with using agitated saline and computed tomography (CT).
Brachiocephalic Veins* ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Dihydroergotamine ; Echocardiography, Transesophageal

Congenital onychodysplasia of the index fingers (COIF, Iso and Kikuchi syndrome) is a congenital disorder characterized by various forms of nail dysplasias mainly-involving the index fingers. Its etiopathogenesis is still unknown, but ischemia of the palmar digital arteries has been suggested to play a role in this disorder. Although not specific to it, a Y-shaped bifurcation of the distal affected phalanx is a characteristic finding of this syndrome. In this review, we report a case of COIF who presented with bilateral micronychia with a Y-shaped bifurcation of the distal phalanx.
Arteries ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Fingers ; Ischemia ; Nails

Accessory tragi are an unusual congenital disorder, which are derived from a developmental abnormality of the first branchial arch. They appear at birth as soft or firm skin-colored papules or nodules, usually located in front of the auricle. There was no report of familial accessory tragi in Korean literature. Herein, we present two cases of familial accessory tragi occurring in a brother and a sister.
Branchial Region ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Humans ; Parturition ; Siblings

Introduction. Birth defects are global problem with impact particularly severe in middle - to low -income countries. In the Philippines, there is a limited data on birth defects despite the fact that congenital anomalies have been in the top 10 causes of infant mortality. The objectives of the study were: 1.) to determine the occurrence of birth defects among patients admitted to the Philippine General Hospital (PGH); 2.) To present the distribution of patients by geographic location and age group distribution; 3.) To categorize birth defects by organ systems; and 4.) To categorize birth defects as either isolated, part of a recognizable syndrome, chromosomal syndrome of multi-malformed case. Methods. Patients admitted to PGH from 2001-2010 and to have major structural defects were included in this study. Case ascertainment was done through a review of medical records of all admitted patients age 0 to more than 65 years old. Patients with birth defects was assigned codes of International Classification of Diseases (ICD)-10 classification. Results. Of the 438,944 admissions to the PGH from 2001 to 2010, there were 8,686 (2.0%) patients with a diagnosis of at least one (1) birth defect. The most common birth defects are as follows: digestive system (3,605/8,686 or 41.5%), cardiovascular system (,839/8,686 or 32.7%), nervous system (1,070/8,686 or .3%) and genital organ anomalies (755/8,686 or 8.7%). The common digestive system anomalies were cleft lip and /or palate (1,548/8,686 or 17.8%), imperforate anus (698/8,686 or 8%) and hirschsprung disease (582/8,686 or 6.7%). Most of the cardiovascular system anomalies were congenital malformations of the cardiac septa (1,160/8,686 or 13.4%) and the great arteries (769/8,686 or 8.9%), while almost of the nervous system anomalies were due to congenital hydrocephalus (347/8,686 or 4%), encephalocoele (303/8,686 or 3.5%) and spina bifida (193/8,686 or 2.%) The most common genital organ anomalies were hypospadias (340/8,686 or 3.9%) and undescended testicle (233/8,686 or 2.7%) Majority (4,042/8,686 or 46.5%) of birth defect cases came from the National Capital Region (NCR) while 32.5% (or 2,87/8.686) of the cases came from region IV-A or Cavite, Laguna, Batangas , Rizal and Quezon (CALABARZON) Region. Conclusion. The results of this study show that the most common birth defects are digestive, cardiovascular, nervous system, and genital organ anomalies. This trend is similar to those reported internationally. The findings of the study can be the basis of policies toward the development and implementation of practical strategies for primary and secondary prevention of birth defects among Filipinos.
Human ; Male ; Female ; CONGENITAL ABNORMALITIES ; CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ABNORMALITIES ; ABNORMALITIES ; EPIDEMIOLOGY

Linear and whorled nevoid hypermelanosis(LWNH) is a congenital disorder which was first described by Kalter in 1988 and is characterized by asymmetrically distributed linear and whorled hyperpigmentation following Blaschko's lines. It usually appears at birth or during the first weeks of life and is rarely associated with various congenital defects. Its pathogenesis is not well known, but developmental somatic mosaicism appears the most likely cause. It is probably not a rare disease, but not well recognized or is confused with other entities. Herein, we report a typical case of LWNH in 9 month-old boy.
Congenital Abnormalities ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Humans ; Hyperpigmentation* ; Infant ; Male ; Mosaicism ; Parturition ; Rare Diseases

Accessory navicular is a congenital anomaly appearing in the secondary ossification center on the tuberosity of the navicular that may cause flatfoot. Bipartite medial cuneiform is another rare congenital anomaly occurring as two primary ossification centers in the medial cuneiform. The authors report a rare case of symptomatic bilateral accessory navicular with bipartite medial cuneiform and flatfoot deformity in a 19-year-old man with a review of the literature.
Congenital Abnormalities ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Flatfoot ; Foot ; Humans ; Young Adult

Congenital anomalies have been in the top ten causes of infant mortality in the Philippines for the past 50 years. Since there is no synthetic surveillance for the congenital anomalies in our country, there are no specific programs directed toward better understanding of this group of patients. The birth defects surveillance project was convinced in 008 to develop a system of reporting of newborns with birth defects at the hospital and community setting. The lead agencies for this project are the University of the Philippines Manila-National Institutes of Health and the department of Health (DOH). This paper describes the establishment of the Philippine Birth Defects Surveillance.
Human ; Male ; Female ; CONGENITAL ABNORMALITIES ; CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ABNORMALITIES ; EPIDEMIOLOGY

Cystic dysplasia of the testis is a rare benign congenital lesion of the rete testis that is often associated with renal and ureteral abnormalities. Herein, a case of cystic dysplasia of the testis, associated with an ipsilateral hypoplastic type of renal dysplasia and an ureterovesical junction obstruction, is reported in a 7-year-old boy.
Child ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Humans ; Male ; Rete Testis ; Testis* ; Ureter ; Urogenital Abnormalities

Linear and whorled nevoid hypermelanosis(LWNH) is a congenital disorder characterized by hyperpigmented macules in a linear and whorled pattern along Blaschko's lines, and develops a few weeks after birth. Skin manifestations closely resemble hypomelanosis of Ito with inverse pigmentation. There is no preceding inflammatory event and no pigmentary incontinence histologically. It may be associated with various congenital abnormalities. We report a case of linear and whorled nevoid hypermelanosis associated with congenital hemihypertrophy of left extremities in a 10-year old boy.
Child ; Congenital Abnormalities ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Extremities ; Humans ; Hyperpigmentation* ; Hypopigmentation ; Male ; Parturition ; Pigmentation ; Skin Manifestations