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Do Twee T - - 2006
PURPOSE OF REVIEW: The purpose of this review is to better understand the spectrum of disease in torticollis, which is the third most common pediatric orthopaedic diagnosis in childhood. Besides the benign muscular tightness of the sternocleidomastoid muscle leading to the classic head position, the differential diagnosis of the wry ...
Lahiri Anindya - - 2006
Macroglossia is defined as an enlarged tongue that protrudes beyond the teeth or the alveolar ridge in the resting position. Macroglossia may be classified into generalised and localised based on the extent of tongue involvement. Each of these groups can be subdivided into congenital, inflammatory, traumatic, metabolic and neoplastic lesions ...
Ranjith G - - 2006
The clinical presentation of pseudohypoaldosteronism (PHA) mimics congenital adrenal hyperplasia (CAH). Poor response of the dehydration and electrolyte abnormalities to steroid therapy should make one suspect PHA. The treatment is supportive in the form of salt replacement and sodium resonium. We report a case of PHA that presented as salt ...
Burroughs John R - - 2006
A 4-year-old boy was referred for blepharoptosis. Examination revealed the presence of oculomotor-abducens synkinesis (right upper eyelid elevation with right gaze). Reports of congenital oculomotor-abducens synkinesis syndromes are rare. Two surgeries required more levator resection than anticipated to obtain the first, to our knowledge, reported successful result in this condition.
Kulac M - - 2006
Port-wine stains are frequently seen congenital vascular malformations consisting of ectatic dermal capillaries. Acquired port-wine stain that develops later in life is an uncommon vascular lesion that is morphologically identical to a congenital port-wine stain. In the majority of acquired port-wine stains, the aetiology is unknown, but trauma is an ...
Ronderos-Dumit D - - 2006
Amniotic band syndrome is a sporadic condition that may result in constriction bands, amputation and multiple craniofacial, visceral and body wall defects. It occurs in 1/1,200 to 1/15,000 live births. Most cases present with multiple congenital anomalies that are incompatible with life. A small group of fetuses shows isolated limb ...
Nappi Carmine - - 2006
Leiomyomatosis peritonealis disseminata (LPD) is a rare disease in which multiple smooth muscle or smooth muscle-like nodules develop subperitoneally in any part of the abdominal cavity. No reports of multiple congenital malformations associated with LPD have been found in the English literature. A 27 year-old patient referred to our gynaecology ...
Indumathi C K - - 2005
Congenital Nephrotic Syndrome (CNS) with adrenal calcification and CNS with congenital heart disease (CHD) have rarely been reported. However, CNS with both these rare associations has never been previously reported. Here we report a case of CNS with both rare associations, perhaps the first report from India to the best ...
Wu Hong-Fei - - 2005
Congenital agenesis of the seminal vesicle (CASV) is frequently associated with congenital absence of the vas deferens (CAVD) or ipsilateral congenital vasoureteral communication. We reported two cases of a rare condition that the vas deferens open ectopically into Mullerian duct cyst associated with agenesis of the ipsilateral seminal vesicle. The ...
Egier Deena - - 2005
Cryptophthalmos is a condition of congenital eyelid malformation most commonly accompanied by syndactyly, urogenital anomalies, and cognitive impairments as in Fraser syndrome. We report on a patient with characteristic features consistent with autosomal dominant bilateral complete isolated cryptophthalmos. This patient represents only the sixth documented case of bilateral complete isolated ...
Giavroglou C - - 2006
Portal vein aneurysm is a rare clinical entity, with only 41 published cases in the English-language literature. Twenty-five of them were congenital. We present the case of a 50-year-old woman who was incidentally diagnosed with a congenital extrahepatic portal vein aneurysm during an investigation for dyspepsia. Ultrasonographic features are described ...
Ratliff Heather L - - 2006
We report four cases of persistent left superior vena cava (LSVC) incidentally recognized during device implantation. Persistent LSVC is the commonest venous anomaly of the thorax and drains into the right atrium via the coronary sinus. Persistent LSVC demonstrates several congenital variations including variable communication with right-sided superior vena cava ...
Kanotra Sonika - - 2006
Congenital epulis or gingival granular cell tumour is a rare lesion occurring in the newborn, affecting females eight times more than males and arising more commonly from the maxillary than the mandibular alveolar ridge. We report the case of a five-day-old girl who presented to us with a large mass ...
Martin Christian - - 2006
Congenital minor ear malformations are very uncommon. Their etiology can be explained by the embryological development of the middle ear structures. Their classification, diagnosis and treatment pose certain problems. We report on one case of congenital stapes fixation and one case of oval window absence, both associated with an abnormal ...
Kashiwamura Masaaki - - 2005
OBJECTIVES: To present clinical features of congenital cholesteatoma treated in our institute and to investigate the locations of congenital cholesteatoma in the middle ear of Japanese patients to verify its pathogeneses. PATIENTS AND METHODS: A retrospective chart review of patients in our institute and a review of articles on congenital ...
Jeeva Rathan J - - 2005
Lymphangiomas are congenital malformations of lymphatic vessels filled with a clear protein-rich fluid containing few lymph cells. It can also occur in association with hemangioma. Large lymphangioma extending into the tissue spaces of neck is referred to as cystic hygroma. Herewith, we present a case of cystic hygroma associated with ...
Heffel Dominic F - - 2005
Congenital nevi remain a constant and challenging clinical entity for plastic surgeons due to the unsettled question regarding the true incidence of conversion to melanoma. This paper will review the recent distinction described in the literature. To truly obtain a current authoritative accord, a new interdisciplinary consensus conference should probably ...
Vadmal Manjunath - - 2005
Pterygium inversum unguis (PIU) is an uncommon nail abnormality in which the distal nail bed adheres to the ventral surface of the nail plate with obliteration of the distal nail groove. This rare condition, whether congenital, acquired, or idiopathic, has been reported in a few patients. Because of the rarity ...
Sinha D D - - 2005
A case of congenital parotid lipomatosis in an infant is reported and literature is reviewed. This rare condition in children presents as gradually increasing parotid swelling, which is difficult to diagnose preoperatively as this condition is not considered in the differential diagnosis of a parotid mass. Complete excision with superficial ...
Bhat A K - - 2005
Macrodactyly is a rare congenital anomaly characterized by large digits. The usual involvement of macrodactyly is on the pre-axial side of the limb. There has been only one case report to date with involvement of both hands and feet in a child with post-axial upper limb involvement. We report an ...
Akhtar Jamshed - - 2005
Two cases of congenital pyloric atresia (CPA) are, hereby, reported. One was suspected on antenatal ultrasound and turned out to be an isolated anomaly. Other patient had a rare association of aplasia cutis congenita with congenital pyloric atresia. The lesions of aplasia cutis congenita were multiple while congenital pyloric atresia ...
Klinger Marco - - 2005
A rare case of isolated congenital bone agenesis in a young woman referred to the authors for aesthetic correction of the dorsum profile is described. There are no descriptions of surgical treatment for this isolated facial defect in the literature. After a complete and accurate diagnostic study, a rhinoplasty was ...
Cauchi John A - - 2005
Often misdiagnosed as primary megaureter or pelviureteric junction obstruction, congenital ureteral stenosis and valves are the main causes of congenital ureteric obstruction. We report three consecutive cases of congenital ureteric strictures presenting with antenatally diagnosed hydronephrosis. Two of our cases had a contralateral multicystic dysplastic kidney. We discuss the aetiology, ...
Eskild-Jensen Anni - - 2005
PURPOSE: The natural history of and optimal treatment for asymptomatic congenital hydronephrosis is unknown, mainly because most published series are nonrandomized or retrospective with nonstandardized followup regimens. In this survey we provide an overview of the different strategies used for the treatment of congenital unilateral hydronephrosis. MATERIALS AND METHODS: A ...
Sanatkumar S - - 2005
Benign fibrous histiocytoma is such a rare tumour that only a few cases have been reported in the literature. A patient with an apparently benign lesion of the distal radius, along with congenital dislocation of the radial head, was presented at St. John's Medical College Hospital in Bangalore, India. Pain ...
Kurto─člu Selim - - 2005
A case is described of a three-day-old female with salt wasting type of 21-hydroxylase deficient congenital adrenal hyperplasia who presented with acanthosis nigricans of both axillae. Following corticosteroid and mineralocorticoid therapy for disease, the acanthosis nigricans resolved. It is believed that this is the first reported case of acanthosis nigricans ...
Puvaneswary M - - 2005
Primary double-chambered right ventricle is an uncommon congenital anomaly that presents with right ventricular outflow tract obstruction in childhood or adolescence. A search of the literature revealed only a few documented case reports with MRI findings. We present a case with mixed lesions, and with anomalous muscle bundles located both ...
Arpaia Nicola - - 2005
BACKGROUND: Regression of congenital melanocytic nevi is usually accompanied by the halo phenomenon and is considered a rare event. OBJECTIVE: A 15-year-old woman presented for the evaluation of multiple halo nevi. She had on her trunk a figure-of-eight pigmentary lesion, which had been developed after the coalescence of two distinct ...
Ryu Jung-Ho - - 2005
Soft tissue chondromas are rare benign tumors unrelated to bone that arise primarily in the distal extremities, especially in the fingers of middle-aged adults. We report an extremely rare case of congenital soft tissue chondroma, arising in the left great toe of a new-born infant. The present case is, to ...
Vun Y Y - - 2005
An 8-year-old boy born prematurely at 26 weeks' gestation presented with a reticulate scar on the left cheek. This started as an eroded area on day 3 postpartum, followed by crusting and scarring. There were also linear scars on the left forearm, left lower back and abdomen. The clinical picture ...
Patrianakos Alexander P - - 2005
Ventricular septal defect (VSD) is the most frequent congenital heart disease in adults, with equal distribution in both sexes, and has an incidence of about 20% in children. In adults congenital VSDs represent about 10% of all cases and the mortality at age 60 is around 75%. For elderly patients ...
Smith Joseph L JL - - 2005
Laryngomalacia is a common congenital laryngeal abnormality. Despite its being widely discussed in the literature, the pathophysiology is not clearly understood. Both anatomic and neuromuscular theories have been suggested to explain laryngomalacia. We report 4 cases of laryngomalacia in which the presenting signs occurred during sleep. Awake flexible nasopharyngolaryngoscopy failed ...
Al-Assiri Ali - - 2005
Intrathoracic stomach is a rare and serious congenital abnormality. The anomaly may be complicated by gastric volvulus and can lead to ischemic gastric infarction in the neonate. If diagnosed antenatally, neonatal management can be planned in advance so as to reduce morbidity. This anomaly must be differentiated from the more ...
Lenane Patsy - - 2005
Alopecia areata, the alleged autoimmune process leading to nonscarring hair loss, is not uncommon. It has been classified as an acquired cause of alopecia; however, recently it has been reported in the neonatal period. We report 4 cases of congenital alopecia areata with follow-up from 3 to 5 years. The ...
Tanrikulu R - - 2005
Congenital alveolar synechiae is rarely seen as an isolated disease. It is generally observed together with various syndromes such as Van der Woude and cleft palate lateral alveolar synechiae syndrome, and is concomitant with other anomalies in the maxillofacial or other regions of the body. Prior to this case report ...
Balci Sevim - - 2005
Omphalocele, or exomphalos, is a rare defect of the periumbilical abdominal wall in which the coelomic cavity is covered with peritoneum only, resulting in congenital eventration of abdominal contents at the base of the umbilical cord. The etiology is still unknown. In this paper a new case of omphalocele with ...
Olson Jaret L - - 2005
Congenital epulis is a rare benign hamartoma of the alveolar ridge found in the newborn. The clinical characteristics of this lesion show some variability, and opinion of its pathogenesis lacks consensus. Congenital epulis can cause feeding or respiratory compromise. A case report and review of the literature is presented. The ...
Chibber Percy Jal - - 2005
Aphallia is known to be a very rare congenital malformation, with an occurrence of 1 in every 30 million births; only 75 cases have been reported in the literature till recently (Hendren WH. J Urol 1997; 157: 1469-1474). Gender reassingnment is recommended for the affected newborns in infancy (Elder JS. ...
Mathur Neeraj N - - 2005
Bleomycin is an established antineoplastic drug, but recently some attempts were made to inject it locally as a sclerosing agent in cases of congenital lymphatic malformations. We present the outcome of this treatment modality tried on 10 paediatric cases of whom 9 had such malformation in the cervical region and ...
Mathur Neeraj N - - 2005
We report here a case of arhinia with its complete manifestation, which is a very rare congenital abnormality. The newborn had complete absence of external nose with that area being totally flat and firm on palpation. A tracheostomy was performed on this child as the parents insisted on early discharge ...
Antonio Andréa Gonçalves - - 2005
Congenital syphilis is an infectious disease transmitted by an infected mother to her fetus. Several reports in the literature have focused on oral manifestations of congenital syphilis, mainly about Hutchinson's teeth and dysplastic molars, which are more common. However, this paper describes an unusual feature of congenital syphilis in a ...
Acosta Frank L FL - - 2005
Neurocutaneous melanosis (NCM) is a rare congenital neurocutaneous syndrome characterized by large or multiple congenital melanocytic nevi and benign or malignant melanocytic tumors of the leptomeninges. The authors report the case of a 5-month-old girl with congenital giant melanocytic nevi who presented with symptomatic hydrocephalus. A right frontal ventriculostomy was ...
Yilmaz Mustafa Deniz - - 2005
Congenital anomalies of the nose is comprised of a broad spectrum of different types of malformations ranging from a minor alar cleft to total agenesia. Reports about congenital septal defects are few in literature. In this manuscript, we report on a 19-year-old male patient with a congenital defect on the ...
Kajbafzadeh Abdolmohammad A Department of Pediatric Urology, Children's Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran. - - 2005
The aims of this review are one, to consider that congenital urethral anomalies are not a simple disease entity in all patients. This is accomplished by reviewing the evidence for presence of posterior urethral valve subtypes and comorbidity of various unexplained clinical conditions in some children leading to chronic renal ...
Babu R - - 2005
H-type tracheo-oesophageal fistula (H-TOF) and congenital oesophageal stenosis (COS) are both rare anomalies. Only six cases of H-TOF in association with COS have been described in the literature. Characteristically, diagnosis is delayed, often well beyond the neonatal period. We report a patient who was accurately diagnosed on day 12 of ...
Haargaard Birgitte - - 2004
OBJECTIVE: To study the distribution of congenital/infantile cataract in the entire population of Denmark according to etiological and clinical classifications. DESIGN: Population-based cohort study with retrospective chart review. PARTICIPANTS: All children (0 to 17 years old) who were born between 1959 and 2001 and registered with congenital/infantile cataract in Denmark ...
Zaal L H - - 2004
INTRODUCTION: Congenital naevi (CN) vary greatly in size, macroscopic appearance and histology. There is a practical need to subdivide CN according to size, since size differences have a direct bearing on cosmetic and resultant psychological problems, and on therapeutic options, and probably on the chance of malignant transformation. In this ...
Barnes Chris - - 2004
Severe congenital neutropenia (SCN) and Clostridium septicum myonecrosis is an uncommon and life-threatening association requiring urgent combined aggressive medical and surgical management. We report 2 cases of SCN (1 with known Kostmann's syndrome and 1 not known at presentation to have a congenital neutropenic disorder but subsequently received a diagnosis ...
Nicollas R - - 2005
OBJECTIVE: To report two cases of an undescribed association of first branchial cleft fistula and middle ear congenital cholesteatoma and to discuss management and embryological hypothesis. DESIGN: Retrospective study and review of the literature RESULTS: Both patients were young girls free of past medical or surgical history. Surgical removal of ...
Roh Jong-Lyel - - 2005
Hypoplasia of the epiglottis diagnosed at adulthood is extremely rare. Most patients with epiglottic hypoplasia have presented life-threatening symptoms of respiratory distress and severe aspiration in infancy or early childhood. This is a case of congenital epiglottic hypoplasia found in a 42-year-old man complaining of mild hoarseness and throat discomfort. ...
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