OBJECTIVE: Several hypotheses of different medical and psychological delayed manifestations among people who have congenital rubella syndrome (CRS) have been discussed. This study tests some of these hypotheses of delayed manifestations. METHODS: Gathering information about 35 individuals who have CRS and who are congenitally deafblind. RESULTS: None of the hypotheses ...

Yellow nail syndrome (YNS) is an uncommon disorder characterized by a triad of nail dystrophy, lymphedema, and pleural effusion. It is rare in children and congenital occurrence of YNS has been very rarely described. We report a 2-year-old Arab boy having congenital yellow nail syndrome with mild facial dysmorphism and ...

Brown syndrome is characterized by restricted elevation in adduction. Congenital Brown syndrome usually is diagnosed during early childhood. It is believed to be caused by an abnormality of the superior oblique tendon as it passes through the trochlea. The natural history of Brown syndrome is poorly characterized. Many patients with ...

Congenital dislocation of the patella may present as an isolated anomaly or may be associated with other lower limb deformities as part of a more complex malformative or dystrophic syndrome. One type is the congenitally dislocated patella fixed irreducibly from birth in a lateral position, and second is the obligatory ...

INTRODUCTION: Congenital lacrimal fistulae are a developmental disorder and can be associated with other hereditary developmental diseases. CASE REPORT: A patient with Down syndrome presented with events of recurrent dacryocystitis and lacrimal fistulation on 1 eye. A DCR surgery with excision of a fistula had been performed 2 years before. ...

Vertical transmission of Plasmodium falciparum is under-recognized and usually associated with asymptomatic low-level parasitemia at birth. We report symptomatic congenital malaria presenting as a neonatal sepsis syndrome. The presence at birth of a high asexual parasitemia, gametocytemia, and splenomegaly indicated in utero rather than intrapartum transmission. The neonate was successfully ...

BACKGROUND: Congenital idiopathic clubfoot is the most common musculoskeletal birth defect that develops during the fetal period, but with no known etiology. MYH 2, 3, 7, and 8 are expressed embryonically or perinatally, the period during which congenital idiopathic clubfoot develops; are all components of Type II muscle, which is ...

We present a preterm neonate who developed congenital rubella syndrome in a mother who had rubella at 5 months of gestation. An amniocentesis was done in the mother at that time but amniotic fluid rubella PCR was negative. Thus, inspite of prenatal screening, one cannot definitely conclude absence of perinatal ...

Congenital neutropenia syndromes comprise a heterogeneous group of disorders leading to increased susceptibility to bacterial infections. Recent work has elucidated the molecular basis of several congenital neutropenia syndromes such as mutations in ELA2, HAX1, GF11, and WAS. In addition, a number of complex clinical syndromes associating congenital neutropenia have been ...

Congenital stridor is rare. The most common presentation for congenital stridor is chronic loud breathing since birth. It is noticed in patients by the first 4 to 6 weeks of life. There are many causes of congenital stridor. Laryngomalacia is the most common cause of congenital stridor. Congenital vocal cord ...

Cushing's disease in a neonate is rare and has been reported secondary to pituitary macroadenoma. A case of Cushing's syndrome due to congenital immature teratoma in the region of the pituitary has never been reported. We discuss a case of a neonate who presented with Cushing's syndrome secondary to a ...

Pseudo-Kaposi sarcoma is a disease entity that encompasses acroangiodermatitis as well as Steward-Bluefarb syndrome. It has varied etiologies and clinical presentations. Most important distinction is from Kaposi sarcoma and this is mainly histopathological. Here we report a case of acroangiodermatitis in a patient with congenital myopathy and have also discussed ...

Anophthalmia is the congenital absence of ocular tissue from the orbit. Many syndromes and malformations (e.g., anophthalmia-esophageal-genital syndrome, Matthew-Wood syndrome, CHARGE syndrome, oculo-facial-cardio-dental-syndome, heterotaxy, and Fraser syndrome) have been associated with anophthalmia. However, its relation with congenital heart disease has not been fully elucidated. In this article, we discuss two ...

We report a case of a child who presented cerebral and ocular congenital toxoplasmosis associated with West syndrome. He was seen and followed-up in the in patients pediatric and ophthalmologic units at the Gyneco-Obstetric and Pediatric Hospital of Yaoundé in Cameroon between July 2008 and February 2010.

We have examined 11 patients with aplasia of the thumb and we have treated by pollicization of the index finger. We have conducted a follow up of 5 years. The total absence of the thumb may be an isolated anomaly, but it is often associated with some other congenital malformation. ...

SUMMARY: Congenital differences of the upper limb occur in approximately 0.16 to 0.18 percent of live births. These patients provide a unique challenge for the reconstructive hand surgeon. The correct and timely diagnosis of hand and upper limb congenital differences will lead to appropriate care and rehabilitation. The International Federation ...

Congenital myasthenic syndrome is difficult to diagnose, especially in the neonate when classic myasthenic signs may not be present. Congenital myasthenic syndrome with episodic apnea is a rare cause of recurrent apnea in infancy. We present an infant with nine severe episodes of apnea in her first 6 months who ...

Bipartite scaphoid has been debated, and is of a traumatic origin for some authors and congenital for others. The aim of study is to distinguish clinical, radiographic and MR criteria for the diagnosis of congenital bipartite scaphoid. I describe a case of a patient with bilateral bipartite scaphoid admitted at ...

Cavanagh syndrome is a rare, isolated congenital thenar hypoplasia with characteristic clinical, radiological and electrophysiological features. It has never been reported to occur in association with absent radial artery. We report the case of a boy with left sided congenital thenar hypoplasia fulfilling the characteristic clinical, radiological and electrophysiological features ...

Möbius syndrome is a rare congenital disorder characterized by congenital facial weakness with impairment of ocular abduction. It is considered as a rhombencephalic disorder, and is often accompanied with hypoplasia of the pons and cerebellum. Here we report a male infant who had congenital facial asymmetry with absence of right-sided ...

Congenital patellar syndrome is bilateral isolated absence of patella. Congenital patellar aplasia or hypoplasia associated with genetic disorders belongs to a clinically diverse and genetically heterogeneous group of lower limb malformations. Absence of patella as an isolated anomaly is extremely rare and we discuss such a case in a 9-year-old ...

BACKGROUND: Congenital heart block is a rare complication of pregnancy associated with Sj??gren Syndrome that may result in the death of the foetus or infant, or the need for pacing in the newborn or at a later stage. CASE REPORT: The case is presented of a 64-year-old patient with primary ...

In 2003, the Pan American Health Organization (PAHO) adopted a resolution calling for rubella and congenital rubella syndrome (CRS) elimination in the Americas by the year 2010. Elimination was defined as the interruption of endemic rubella virus transmission in all countries of North America, Central America, South America, and the ...

A congenital aberrant vessel in the pleural cavity has rarely been described in the literature. It has been known to be a source of bleeding in spontaneous hemopneumothorax. As a result of the lack of pleural adhesions around the vessel, a congenital aberrant vessel is prone to deceleration injury. This ...

Congenital fusion of the jaws is rare. It may be unilateral or bilateral and may involve only the soft tissues or both the hard and soft tissues. This anomaly may be seen separately or in association with other syndromes. Congenital alveolar fusion restricts mouth opening, causing problems with feeding, swallowing, ...

Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotransferase) has been reported in a single kindred so far and in association with a phenotype of severe chondrodysplasia with progressive spinal involvement. We report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital joint dislocations. These ...

Congenital neutropenia syndromes comprise a heterogeneous group of inherited disorders. Hereditary conditions associated with low neutrophil counts are persistent and need to be differentiated from neutropenia secondary to autoimmune processes or other pathologic conditions, such as myelodysplasia or leukemia. Clinically, congenital neutropenia is characterized by recurrent bacterial infections. Recently, several ...

We describe a patient with facioscapulohumeral muscular dystrophy (FSHD) associated with Möbius syndrome and congenital ophthalmoplegia. This 7-year-old girl had profound limitation of extraocular movements since birth, congenital facial diplegia, neonatal hypotonia, and progressive limb-girdle weakness. FSHD genetic testing revealed a pathogenic haplotype with a D4Z4 repeat of 30 kb. ...

Congenital swan neck deformity of the fingers is an uncommon congenital disorder. It is sporadic and not associated with other malformations. We report a case of congenital swan neck deformity of the fingers in a 16-year-old boy, with associated ulnar deviation of the fingers, bilateral simian creases and soft tissue ...

This report presents an otherwise healthy infant who developed unexplained apnea and long-segment Hirschsprung disease. After extensive evaluation that included a paired-like homeobox 2b gene (PHOX2B) analysis, he was found to have Haddad syndrome, a congenital disorder that features central congenital hypoventilation syndrome in conjunction with Haddad syndrome. Recent work ...

To assess the condition of the retina in children with retinal degeneration due to Bardet-Biedl syndrome (BBS, n=41), Leber congenital amaurosis (LCA, n=31), or Usher syndrome (USH, n=13), the dark adapted visual threshold (DAT) and arteriolar diameters were measured. Compared to controls, the initial DATs of nearly all (83/85) were ...

Laryngeal, tracheal, and bronchial cartilage calcification is quite rare in children. It was reported to occur in congenital cardiovascular diseases, Keutel syndrome, chondroplasia punctata, warfarin embryopathy, and warfarin sodium therapy. It can occur idiopathically as well. Laryngotracheobronchial cartilage calcification is demonstrated in this report by chest radiography and multiplanar three-dimensional ...

Congenital radio-ulnar synostosis may be an isolated abnormality or additional abnormalities may accompany it. It may also be found as a part of well-known syndromes. We present a case with bilateral congenital radio-ulnar synostosis, speech delay, dimple on shoulders, café au lait spot and characteristic facial appearance. The proband has ...

Medullary sponge kidney (MSK) is a congenital anomaly characterized by dilatation of the collecting ducts of Bellini associated with defective urinary acidification and concentration. Medullary nephrocalcinosis/ nephrolithiasis is the usual presentation in adults, however neonatal and childhood cases are being reported with increasing frequency. Among the conditions associated with MSK ...

The term blueberry muffin baby was initially coined by pediatricians to describe cutaneous manifestations observed in newborns infected with rubella during the American epidemic of the 1960s. These children had generalized hemorrhagic purpuric eruptions that on histopathology showed dermal erythropoiesis. Since then, congenital infections comprising the TORCH syndrome (toxoplasmosis, other, ...

Congenital constriction band syndrome is a sporadic condition that may also be present in association with other congenital anomalies. It has an incidence varying from one in 1200 to one in 15,000 live births. There is a significant predilection for the upper extremities and distal limbs. The two main objectives ...

ABSTRACT: INTRODUCTION: The natural history of congenital Brown Syndrome is poorly understood and documented. In our experience, few adult cases are encountered in clinical practice. CASE PRESENTATION: A case of bilateral congenital Brown syndrome is described, showing spontaneous resolution of clinical signs. Evidence of almost complete resolution over the years ...

PURPOSE OF REVIEW: Severe congenital neutropenia is a primary immunodeficiency in which lack of neutrophils causes inadequate innate immune host response to bacterial infections. Severe congenital neutropenia occurs with sporadic, autosomal dominant, autosomal recessive and X-linked recessive inheritance, as well as in a variety of multisystem syndromes. A principal stimulus ...

Mirror syndrome (that is fetal hydrops with subsequent edema in the pregnant woman) is a rare condition. Early diagnosis is warranted, as maternal and fetal morbidity and mortality is increased if not diagnosed and treated properly. In most cases, the underlying cause remains unclear. We report a woman who has ...

There are several causes of gingival hyperplasia and one of the most well-known is drug-induced gingival enlargement. Nevertheless, causes of congenital gingival enlargement include only hereditary and metabolic disorders. Only one case of drug-induced congenital gingival hyperplasia has been reported. We present the second neonate with gingival hyperplasia in the ...

A 44-year-old woman with fetal thalidomide syndrome and congenital pseudoainhum of the left big toe had a 5-year history of painful nonhealing ulcers in the left malleolar region. Venous Doppler ultrasonography showed hypoagenesis of the valve flaps of the deep and superficial venous circuit. To our knowledge, this is the ...

Rubella and congenital rubella syndrome continue to be important health problems worldwide. The detection of rubella RNA directly in clinical specimens is a critical factor in early laboratory diagnosis of recent or congenital infection, in addition to detection of rubella-specific IgM. In order to comply with recent WHO recommendations for ...

Congenital hand is a complex and vast subject therefore classification is very necessary for the purpose of teaching, communication and guide treatment. The first comprehensive and yet user friendly classification was proposed by Swanson et al. in 1976. This classification based on etiopathogenic is popularly known as the 'IFSSH 7 ...

Polydactyly is a fairly common congenital condition of the foot and is characterized literally by supernumerary toes (digit or metatarsal). The frequency of polydactyly varies widely among populations. It may be an isolated condition or part of a congenital syndrome. Eight-toed polydactyly is a distinctly rare congenital foot anomaly. In ...

A passive constriction phenomenon has been proposed to explain the development of congenital pseudoarthrosis of the tibia. We report a case of congenital pseudoarthrosis of the tibia in a child with congenital constriction band syndrome, successfully treated with soft tissue release (cutaneous and deep) only, restoring normal periosteal blood supply ...

The etiology of craniofacial asymmetry secondary to positional plagiocephaly with or without concomitant congenital muscular torticollis has been well established. It has been proposed that the craniofacial asymmetry secondary to congenital superior oblique palsy involves a similar etiology. The causal relationship has been thought to be a result of the ...

Bruck syndrome is characterized by the association of arthrogryposis and osteogenesis imperfecta. It is a distinct autosomal recessive disorder associated with normal collagen I. The main features are osteoporosis, long bone bowing and scoliosis due to vertebral deformities and congenital joint contractures. We describe a French girl who was born ...

Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant syndrome characterized by canine teeth with extremely large roots (radiculomegaly), congenital cataract, dysmorphic facial features and congenital heart disease. A case of mother-daughter vertical transmission of OFCD is reported. Dental findings were important in confirming the diagnosis in the mother.

The Antley-Bixler syndrome (ABS) is a multiple congenital malformation syndrome with craniosynostosis, radiohumeral synostosis, femoral bowing, choanal atresia or stenosis, joint contractures, urogenital abnormalities and, often, early death. Autosomal recessive and dominant inheritance have been postulated, as has fluconazole teratogenesis. Mutations in POR (P450 (cytochrome) oxidoreductase, an essential electron donor ...

OBJECTIVE: Individuals with congenital central hypoventilation syndrome have characteristic variants in the PHOX2B gene (primarily polyalanine expansion mutations). The PHOX2B gene acts as a transcriptional activator in the promotion of pan-neuronal differentiation in the autonomic nervous system during early embryologic development, with a primary role in the sympathetic noradrenergic phenotype ...