Isolated congenital lymphoedema of the external genitalia in boys is extremely rare. It can have major physical and emotional consequences for the children. Three male patients with primary lymphoedema of the penis and scrotum are described. The first case presented with lymphoedema of the prepuce and the phallic skin that ...

Congenital absence of portal vein (CAPV) is a rare vascular malformation: all 16 cases up to now reported are associated with other congenital anomalies and with benign or malignant hepatic neoplasms. Our report concerns a girl with a complex malformative syndrome consisting of CAPV, nodular tumor-like hyperplasia of the liver, ...

Congenital complete and near-complete tracheal rings are extremely rare tracheal deformities. There are fewer than 100 cases of congenital complete tracheal rings, and only four cases of near-complete described in the literature. Long-segment occurrences of these anomalies are usually incompatible with life. We describe the presentation of the long-segment near ...

We report the case of a newborn Indian girl with congenital sodium diarrhoea (CSD) who presented typically in utero, in whom diagnosis was made from markedly raised stool sodium in the presence of an alkaline stool. Treatment with sodium citrate normalised her metabolic and electrolyte status but resulted in transient ...

OBJECTIVE: To document an association of round window atresia with congenital stapes fixation, discuss the diagnostic role of computed tomography, and implicate the clinical significance of these anomalies. STUDY DESIGN: Retrospective chart review and review of the literature. RESULTS: The authors report three pediatric cases of round window atresia. All ...

Lymphangiomatosis is an extremely rare congenital disorder affecting visceral organs and/or the skeletal system. In bone is is usually characterized by multiple lytic lesions with a lacelike pattern and sclerotic margins of various thickness. In this case report we demonstrate the rare sclerotic variant of lymphangiomatosis. We report the development ...

Collodion baby is a rare congenital disorder resembling harlequin fetus but is milder in degree. Although it has been reported that harlequin fetus is associated with kidney abnormalities, malignant keratoma, micromelia, polydactyly, thymic atrophy and thyroid aplasia, there are few reports of collodion baby associated with congenital abnormality and/or disease ...

Congenital microgastria is an uncommon result of impairment of normal foregut development. To date, only 39 cases have been described in the literature. We report a boy born with microgastria and bilateral hypoplastic kidneys who had feeding problems, resulting in failure to thrive and growth retardation. After a short period ...

Bronchopulmonary sequestration (BPS) is usually a rare congenital anomaly, which is most frequently extralobar or intralobar. The case of a patient with positional congenital anomaly--dextrocardia (situs thoracalis inversus) and intrapulmonary sequestration (IPS) is presented. Clinical and radiological characteristics of EPS and IPS are discussed, and new combinations of congenital anomalies ...

Congenital cystic adenomatoid malformation (CCAM) of the lung is a neonatal disease not often found after the first year of life and extremely rare in adults. Three cases of CCAM, one in a ten-year-old girl and two in adults, are reported. An understanding of this disease is important because, although ...

Congenital erosive and vesicular dermatosis healing with reticulated, supple scarring is a rare disease with seven reported cases in the literature. This congenital cutaneous defect of unknown etiology presents with patchy or generalized erosions and vesicles at birth that heal with striking reticulated scarring. We report three new cases of ...

Harlequin fetus is a rare and the most severe form of congenital ichthyosis. Most of the infants die within a few weeks after birth due to sepsis and respiratory difficulties. The case of a female harlequin baby is reported. The baby survived because of good neonatal intensive care, topical emollients ...

Congenital absence of the fibular sesamoid of the hallux is an extremely rare condition. We could find only one previously reported case in the literature. The authors present a second case of congenital absence of the fibular sesamoid and a review of the literature regarding the clinical significance of this ...

Congenital cystic adenomatoid malformation (CCAM) of the lung is a rare pulmonary lesion, characterized by an excessive overgrowth of the terminal respiratory bronchioles. The lesion is almost always unilateral and may occur in any lobe. We present two children with CCAM. The first case was a one-day-old female infant admitted ...

Congenital absence of portal vein is a rare malformation. To date, 16 cases have been reported--all in association with other anomalies, i.e. benign or malignant hepatic neoplasms in 6 cases and cardiac malformations in 12. This case report described a girl with congenital absence of portal vein, focal nodular hyperplasia ...

The authors describe a case of an inborn contracture of the superficial flexors of the three-phalangeal fingers in a 15-year-old girl and treatment of the condition. For clinical purposes a classification on congenital deformities in the proximal part of the flexor complex was proposed in which the described case is ...

Solitary maxillary central incisor (SMCI) and congenital nasal pyriform aperture stenosis (CNPAS) have been reported as an isolated morphogenic defect or associated with pituitary deficiency, holoprosencephaly, ocular coloboma, or chromosomal abnormalities. We report two cases and analyse 40 cases of SMCI and 24 cases of CNPAS, including 15 cases of ...

Myositis ossificans progressiva (MOP) is a rare hereditary connective tissue disorder characterized by progressive ossification of striated muscle and connective tissue associated with pain and disability. It is presumably transmitted as an autosomal dominant defect. Congenital anomalies of the hands and feet are early signs of this disease. Involvement of ...

The authors report a case of congenital cystic adenomatoid malformation of the lung (CCAM) with extramedullary hematopoiesis (EMH). A baby girl suffered from Rh incompatibility and hemolytic anemia. She exhibited respiratory distress. Chest radiography and magnetic resonance imaging findings showed a CCAM. A resection of the upper and middle lobes ...

A rare case associated with congenital hematometrocolpos in a circumcised 13 years old Somalian girl is presented. Emphasis on proper history is highlighted. Mutilation caused by bad cultural practice of female circumcision which is although not a problem in Pakistan, is brought into notice for those who may be unaware ...

We report a rare case of paternally transmitted congenital myotonic dystrophy (DM). The proband is a 23 year old, mentally retarded male who suffers severe muscular weakness. He presented with respiratory and feeding difficulties at birth. His two sibs suffer from childhood onset DM. Their late father had the adult ...

A 54-year-old Ethiopian woman presented to Tikur Anbessa Hospital with left flank pain and left renal tumour mass in October 1996, and biopsy from nephrectomy specimen was reported as classical congenital mesoblastic nephroma (CMN). The clinical presentation, laboratory data and the pathologic findings of the patient are described in detail. ...

Congenital non-obstructive dilatation of penile urethra (megalourethra) can result from absence of corpus spongiosum alone (scaphoid) or along with the absence of corpora cavernosa (fusiform). Associated urogenital or other systemic anomalies are usually present and require detection and appropriate management. Urethroplasty (Nesbitt) gives desirable results. Condition has been reviewed with ...

Congenital abnormalities of the umbilical venous system are rare. A case of fatal right congenital diaphragmatic hernia (CDH) in association with an anomalous umbilical vein bypassing the liver and directly entering the right atrium is presented. The ductus venosus was absent. Although much of the liver was within the right ...

There have been a small number of documented cases of isolated congenital diaphragmatic hernia and ipsilateral limb defects. Early cervical neural crest injury has been postulated as the mechanism behind the coexistence of these two defects. We present a case of left-sided congenital diaphragmatic hernia and ipsilateral radial ray defect ...

Megalourethra is a rare congenital anomaly characterized by severe dilatation of the penile urethra. Four cases of congenital megalourethra were seen at Sir Padampat Mother and Child Health Institute, Jaipur, during the last 10 years. Three cases of scaphoid megalourethra had no other associated congenital anomalies and were treat-ed successfully ...

Xanthinuria is an uncommon metabolic disorder clinically manifested as urolithiasis. There are two forms of the disease, congenital and iatrogenic. The former was diagnosed in a four-year-old dachshund bitch. The patient was presented with signs of terminal chronic renal failure. Urine was bacteriologically sterile with massive amorphous crystalluria. Bilateral nephrolithiasis ...

Congenital abnormalities of the anterior urethra other than hypospadias (valve, diverticulum, and megalourethra) are rare conditions and can be difficult to diagnose. Based on five recent cases of these urethral abnormalities, we review the embryology and the English literature, and have found reports of about 100 cases of valve and ...

Clitoral hypertrophy is usually seen in congenital malformations, specifically in intersexual stages of hormonal expression. Acquired clitoral hypertrophy is a relatively rare condition, and data in the literature concerning this problem are sparse. Articles usually consist only of case reports. Among the contributing factors in the etiology of acquired clitoral ...

Congenital absence of the scaphoid without associated thumb or radial hypoplasia is a rare condition. This report is the third case presented in the literature of this condition. The case presented is of a patient who presented initially with wrist pain. Radiographs revealed a congenitally absent scaphoid and examination revealed ...

STUDY DESIGN: This case report illustrates a scoliotic patient with congenital fusion of several ribs associated with a thoracic curvature. OBJECTIVES: To report the procedure used to correct scoliosis in association with congenitally fused ribs. SUMMARY OF BACKGROUND DATA: All cases of congenitally fused ribs reported in the literature are ...

OBJECTIVE: Retroperitoneal bronchopulmonary sequestrations are rare congenital lesions that have been increasingly reported as incidental findings in utero. We present our case material of congenital retroperitoneal sequestration, discuss the reported imaging and histopathologic characteristics of this entity, and provide an approach to subsequent clinical and surgical management. CONCLUSION: Our data ...

Lymphedema praecox, a type of primary lymphedema, becomes evident at puberty, occurs mostly in girls, and is usually confined to the lower extremities. Arms tend to be involved in either congenital or secondary lymphedema. We describe a unique localization in an 11-year-old girl who had primary lymphedema of the right ...

BACKGROUND: Congenital aphakia is a rare condition that has been classified as primary when no lens induction of the surface ectoderm occurs and secondary when lens development takes place but later is resorbed or expelled in utero. METHODS: The authors report the clinical and pathologic findings in three infants with ...

Congenital ectopic nails are a rare anomaly, but we observed a case of a 43-year-old woman with ectopic nails at the tips of her bilateral little fingers. On X-ray, the distal phalanx of the each little finger appeared depressed. We surgically removed the ectopic nails. One year and 6 months ...

Congenital entropion is a rare eyelid anomaly that can cause chronic corneal erosions or ulceration. The diagnosis may be easily overlooked by both the pediatrician and the ophthalmologist, particularly when the lids are tightly closed in the crying child. We present three cases of congenital entropion associated with corneal ulceration. ...

Congenital pedicle abnormalities are rare. Unilateral aplastic and hypoplastic lumbar pedicles have been reported, but these were usually discovered incidentally and did not need surgical treatment. We present a case of absence of both pedicles and the neural arch of L2, with associated kyphoscoliosis with neurological involvement, that needed a ...

Two siblings (a boy and a girl) had congenital renal tubular acidosis (RTA) with nephrocalcinosis. Hearing loss due to nerve deafness was diagnosed at 13 1/2 and 9 years of age, respectively. The parents, who are second cousins, are healthy. They have another boy who is unaffected. This is in ...

We describe an infant with congenital vocal cord paralysis born to consanguineous parents. While autosomal dominant and X-linked inheritance have been previously reported in this condition, we conclude that the degree of parental consanguinity in this case strongly suggests autosomal recessive inheritance. Although we cannot exclude X-linked inheritance, evidence from ...

Bilateral congenital cholesteatomas are rare. We present the 8th and 9th case of this entity in the literature. One of these cases is especially unusual. In that patient an ear that had been documented as normal, both radiographically and clinically, was found to have a large cholesteatoma 18 months after ...

Imperforate hymen is a rare occurrence in younger women resulting in hydrocolpos and hydrometrocolpos. Though imperforate hymen may be diagnosed in infancy, females ages 9-15 years most often present with the problem. Imperforate hymen usually is a congenital anomaly, but has been reported as a result of sexual abuse. This ...

Primary intracranial rhabdomyosarcoma is extremely rare. Here, a case that is most consistent with a botryoid rhabdomyosarcoma is described in a 4.5-year-old boy. The case is unique because it was preceded by a congenital Dandy-Walker malformation, choroid plexus hyperplasia and an enormous oversecretion of cerebrospinal fluid during infancy.

Classic congenital 11-beta-hydroxylase deficiency is a relatively uncommon cause of congenital adrenal hyperplasia and is characterized by virilization and often hypertension. The association of skeletal abnormalities (short metatarsal bone) and pulmonary stenosis in a patient with 11-beta-hydroxylase has been reported by our group. In this report, three new patients with ...

We report on three patients with black or white comedones arranged along the nasal groove in the distal third of the nose between the alar and triangular cartilages. This peculiar disorder is probably more common than would appear from the small number of cases so far reported in the literature.

Congenital complete atrioventricular block is quite rare, with usually a benign clinical evolution. However, because the first manifestation can be sudden death, it is important to evaluate patients and to establish clear prognostic criteria. A case of complete congenital atrioventricular block in a 38-year-old woman is presented to illustrate these ...

Congenital varus deformity of the first metatarsal can be secondary to the abnormal insertion of abductor hallucis, a space-occupying lesion of the first web space, or hypoplasia of the metatarsal. We report a unique case where all three factors were present in one foot. This was combined with talipes equinovarus, ...

Although decreased bronchial cartilage is found in 50% of cases of congenital lobar emphysema (CLE), it can only be surmised that this defect produces a ball valve effect with consequent overinflation. We describe the flexible bronchoscopic features of CLE in a 3-year-old child. The observed airway patency during inspiration, and ...

Congenital ectopic fingernails are extremely rare and only 22 cases were found in domestic and foreign literature during our investigation. In the 22 ectopic fingernail cases collected, small ectopic fingernails were found along side the normal fingernail (dorsal or palm side), in most cases, and extremely rare double nails, which ...

We report a case of bilateral congenital cholesteatoma in a 6-year-old boy. Cholesteatoma was present in both ears around the tympanic isthmus (the only open passage from the tympanic cavity to the attic), extending to behind the horizontal portion of the facial nerve. This patient underwent a total of three ...

In conclusion, monolateral external fixation can be effectively utilized in the management of limb length discrepancy and angular deformity. This manuscript outlines the pertinent theory, application and problems important in these cases. When faced with specific congenital conditions the surgeon is encouraged to reference relevant literature that is more focused ...