Congenital Horner syndrome is a rare disorder that accounts for less than 5% of all cases of Horner syndrome. Like Horner syndrome in general, it consists primarily of ptosis, miosis, and anhidrosis. Congenital Horner syndrome may manifest some special features such as iris heterochromia since the sympathetic nervous system is an essential component for the development and maintenance of eye co...

The association of congenital central hypoventilation syndrome (also known as Ondine's curse) and Hirschsprung's disease is termed Haddad syndrome, which is an extremely rare disorder. Recent studies have described that the PHOX2B gene mutation was responsible for congenital central hypoventilation syndrome. We report a term newborn male infant with clinical manifestations of recurrent hypovent...

Opitz syndrome is a rare autosomal recessive disorder of cholesterol metabolism associated with mental retardation and multiple congenital malformations. It is also uncommonly associated with congenital glaucoma. We describe the orbital findings on CT in this rare case of a patient with Opitz syndrome who presented with congenital glaucoma, with a review of the literature. The CT findings of co...

In this study, we investigated the impact of congenital amusia, a disorder of musical processing, on speech and song imitation in speakers of a tone language, Mandarin. A group of 13 Mandarin-speaking individuals with congenital amusia and 13 matched controls were recorded while imitating a set of speech and two sets of song stimuli with varying pitch and rhythm patterns. The results indicated ...

OBJECTIVE To determine the inheritance pattern of congenital absence of the uterus and vagina in affected women undergoing surrogacy IVF with this disorder. DESIGN Retrospective study. SETTING A hospital-based reproductive endocrinology and infertility center. PATIENT(S) Women diagnosed with congenital absence of the uterus and vagina undergoing IVF with subsequent transfer of embryos to ...

Alagille Syndrome (ALGS) is a rare autosomal dominant disorder that affects multiple organ systems. Cholestasis as a result of a paucity of intrahepatic bile ducts and congenital heart defects are the two most common features of ALGS. We describe a case of ALGS with novel mutations of JAG1 and NOTCH2 genes in a newborn girl with complex congenital heart disease, bilateral dysplastic kidneys, an...

Congenital mirror movements are rare conditions that define the inability to perform unimanual movements. Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a genetic disorder with multiple nevi predisposing to basal cell carcinoma, odontogenic keratocysts, and skeletal malformations. Herein we report on an adolescent patient with Gorlin syndrome and coexisting congenital m...

A rare case of bilateral blepharochalasis of the upper eyelids is presented in a 10-year-old boy with several systemic abnormalities--unilateral agenesis of the left kidney, multiple skeletal anomalies of the vertebral column, and congenital heart disease with a left to right shunt. Such widespread congenital defects in association with blepharochalasis have not been described before. Blepharoc...

We report a case of congenital inferior wall left ventricular diverticulum (LVD), atrial septal defect and mental retardation detected by intraoperative transesophageal echocardiography. The combination of three features strongly suggests that genetic factors play important role in the pathogenesis of the disorder. Most LVDs are asymptomatic. Echocardiographers and cardiac anesthesiologists sho...

Congenital Hypertrichosis Lanugionsa is a rare autosomal dominant genetic disorder, with fewer than 50 cases reported in the literature. It is characterized by excessive lanugo hair, sparing only the mucous membranes, palms and soles. It may be associated with other organic abnormalities and should form part of the dermatologist's current knowledge. We discuss some aspects of the syndrome in qu...