The authors present a case of congenital, bilateral, symmetrical, and purely transverse plane, abductus deformity of the second digit. The deformity appears to be familial in nature, although other possible etiologies remain including premature closure of the distal-lateral epiphysis of the middle phalanx, or a C-shaped epiphysis of the middle ...

Eleven articles reporting 39 patients with the combination of progressive scoliosis and familial congenital gaze palsy have now been published. This disorder appears to be caused by a malfunction of the normal equilibrial control mechanism related to the brainstem or the central nervous system. The scoliosis progresses when the children ...

Ureteric diverticula is classified as either congenital or acquired. The acquired form is further divided into false or ureter pseudo-diverticula. Of the various types, ureteric pseudo-diverticula have been associated with uro-epithelial tumour more often than expected. This report of a Chinese patient with ureteric pseudo-diverticula presenting with macroscopic haematuria is ...

Congenital ectropion of the upper lid is a rare condition that, if treated early, can be managed without recourse to surgery. We report a case in which an initial attempt at treatment with a pressure bandage failed, leading to a rapid worsening of the condition. A subsequent attempt at repositioning ...

We experienced six cases of congenital tracheal stenosis during a 3 years' period from October 1991 to September 1994 in Chang Gung Children's Hospital, Taiwan. The presenting symptoms of congenital tracheal stenosis varied from acute obstructive upper respiratory episodes in young childhood, stridor and wheezing since birth, recurrent bronchiolitis, difficult ...

A case of congenital annular constricting band syndrome with an open pseudarthrosis of the tibia and fibula is reported. Ischemia, neurological defect and major lymphoedema were present. The child had an emergency treatment combining an external fixator and a one-stage resection of the constricting band. Bone union was obtained within ...

Congenital/Infantile Fibrosarcomas are relatively rare soft tissue tumours. Only 238 cases have been reported till 1986 in the world literature of which 60 were truly congenital. A distinction must be made between them and their adult counterparts because of differences in their clinical behaviour. The authors report three cases and ...

The so-called ablepharon macrostomia syndrome is an extremely rate congenital condition that includes abnormal ears, an enlarged, fishlike mouth, absence of lanugo, redundant skin, and vertical shortening of all eyelids. Only four cases have been described so far. In these cases the nature of the eyelid anomalies has not been ...

Congenital adrenal hypoplasia is a rare disease which is known to cause severe salt wasting in the neonatal period. In this report, we describe three patients from two different families who were seen at King Khalid University Hospital, Riyadh, Saudi Arabia. All patients presented with classical clinical, biochemical, hormonal and ...

A 30-week gestational age male fetus was found to have a congenital neoplasm involving the posterior cranial fossa, identified by fetal ultrasound examination in utero. Histological and immunohistochemical examination confirmed a diagnosis of primitive neuroectodermal tumor (PNET) of the posterior fossa, also referred to as medulloblastoma. Although PNETs have been ...

BACKGROUND: The reported incidence of congenital syphilis in the United States rose dramatically during the 1980s. Although lack of prenatal care has been associated with congenital syphilis, little has been published regarding missed opportunities for prenatal intervention. GOAL OF THIS STUDY: To determine whether congenital syphilis increases in Maryland between ...

Congenital syphilis remains a significant clinical problem, especially in developing countries. We report a fatal case of congenital syphilis complicated by persistent pulmonary hypertension and hypoxic ischaemic encephalopathy. OBJECTIVE: To describe the association of congenital syphilis with persistent pulmonary hypertension of the newborn (PPHN). METHOD: Case report of a single ...

Human true tail is a rarely reported anomaly that may have a marked psychologic impact on the patient's family and may be associated with other congenital anomalies. A true tail in a newborn girl is reported, and findings from a review of the literature are summarized. The clinical and pathologic ...

Glomangiomas, or multiple glomus tumors, occur in disseminated, localized, or congenital plaquelike forms. The first two cases of congenital plaquelike glomangioma were described in 1990. We report a 9-year-old girl with a congenital, violaceous, 75-cm2 indurated plaque of the left abdomen that showed the classic histologic findings of glomangioma. In ...

A retrospective record analysis of the last six years was done to determine the pattern of congenital malformations in the paediatrics department of Gondar College of Medical Sciences Hospital, North Gondar, Ethiopia. Of a total of 7489 admissions, 191 cases of congenital malformations were found, accounting for about 2.6% of ...

Congenital megalourethra is a rare genital anomaly characterized by dilatation of the penile urethra without evidence of distal obstruction. Reports of the prenatal diagnosis of this condition in the literature are limited. We present a case of congenital megalourethra with obstructive uropathy from the posterior urethra diagnosed prenatally at 18 ...

The authors present a study of five cases of vulvar congenital papillomas and papillomatoses in stillborns and neonates dead upon birth. The studied material was collected from five necropsies. The histopathological evaluation showed hyperkeratosis, acanthosis, papillomatosis, perinuclear haloes, and nuclear abnormalities. In three of the cases, the electron microscopy identified ...

Reported cases of congenital syphilis have increased rapidly in recent years. The purpose of this study was to estimate first-year medical care expenditures among 1990 incident cases of infants diagnosed with congenital syphilis. The authors used a synthetic estimation model to calculate expenditures for congenital syphilis as the number of ...

Routine fetal echocardiography has been submitted as an antenatal screening test for congenital heart disease despite a wide range of efficacy reported. Hence, evaluation of the variable results of prenatal ultrasound screening programs was pursued. As the studies appeared to have a heterogeneous design, the originally reported figures have been ...

We describe an infant with a deletion of 8q21-->22 who had distinct clinical manifestations including minor facial anomalies, a congenital heart defect, a Dandy-Walker variant, and mild to moderate developmental delay. Her facial characteristics included small, wide-spaced eyes, asymmetric bilateral epicanthal folds, a broad nasal bridge, a "carp-shaped" mouth, micrognathia, ...

Congenital abnormalities of fibrinogen are rare disorders and all the cases reported in the literature indicate that the incidence of afibrinogenaemia is much higher than hypofibrinogenaemia. Of the total of 20 cases reported from other parts of India only one was congenital hypofibrinogenaemia. In contrast, the present study showed eight ...

A case is described of a nine-year-old girl with a bilateral and symmetrical congenital absence of incus. This very rare abnormality has been described only once previously in the literature. Although the pathology may be rare, treatment is straightforward and prognosis good. A discussion of middle ear embryology and a ...

Congenital encephaloceles are rare lesions which are usually seen in the occipital region, in the West. They may rarely be seen in the frontal region and they have distinct diagnostic features, together with several other pathological conditions occurring in this region. In order to emphasize these points, a retrospective analysis ...

A series of 14 lengthenings for congenital and posttraumatic digital deficiency has been carried out in a single stage utilizing individual, half-frame design, digital lengthening devices. These devices have afforded individual digital stability without need for additional external support and have provided between 2.0 cm and 3.5 cm lengthening per ...

We have restudied the genetic and clinical characteristics of a large Arab kindred previously reported in 1970 by Lebenthal et al. [Pediatrics 46:891-899]. At total of 40 affected individuals was identified; all, except one, were products of 22 different consanguineous matings between the parents. The syndrome, which is present at ...

We describe a 21-week-old fetus with a pattern of multiple congenital anomalies suggestive of the human homologue of the mouse mutant disorganization (Ds). Manifestations included facial asymmetry, thick eye brows, micrognathia, apparently lowset ears, an enormous abdominal wall defect, severe kyphoscoliosis, camptodactyly of the fingers, complete absence of the left ...

We report seven cases of congenital absence of the lacrimal puncta, a condition that may be either an isolated finding or associated with other developmental anomalies. General pediatric evaluation of two patients with punctal agenesis revealed no additional abnormalities; these cases were managed by probing and silicone intubation. The other ...

Reports of ring menisci are rare. This article describes a case of a congenital lateral ring meniscus and includes a literature review. The anatomy of the menisci of various vertebrates is described with an attempt to discuss the possible origin of the anomaly. Although ring menisci are asymptomatic, they are ...

Congenital microgastria is an extremely uncommon dysplasic condition of the newborn stomach. With only 26 well-documented accounts of this anomaly reported in the literature, its treatment and long-term outcome have not been well elucidated. Herein, the authors report on a newborn with multiple congenital anomalies who presented with severe reflux ...

Congenital renal arteriovenous malformations (AVMs) are rare, with approximately 50 cases reported in the literature. Typically, they are small (1 to 2 cm) and the majority present with hematuria and symptoms and signs of congestive heart failure. Review of the literature revealed only 4 cases reported in pregnant patients and ...

A palmar dermatoglyphic study of 392 hands of patients with congenital hand anomalies was performed to evaluate the number of digital triradii, the position of an axial triradius, the incidence of hypothenar patterns, the pattern intensity, and the main line index. Remarkable variations, which are rare in normal hands, were ...

A rare case of the congenital patent urachus in an adult is reported. The patient, a 42-year-old man, was admitted with the chief complaint of macroscopic hematuria. During the cystoscopy perfusion water discharged from the umbilicus. Diagnostic imaging revealed a tubular fistula between the bladder and umbilicus and the patient ...

Congenital pedal deformities are well documented within the literature. The following article reviews a case history of a 4-year-old girl with a unique case of polymetatarsia and the complications associated with the resultant deformity. The history, case presentation, surgical treatment rendered, and follow-up care are presented. A review of the ...

This case report describes phantom limbs in four adults with congenital limb deficiency. Case 1, with congenital absence of the left arm below the elbow, received a minor injury of the stump at age 16 and subsequently developed a full-length phantom arm, hand and fingers. Cases 2 and 3, at ...

As part of an epidemiological study of congenital hydrocephalus in Utah, we focused on the effect of ascertainment sources and temporal variability to further delineate the causes of this relatively common, handicapping birth defect. The incidence and distribution of 934 reported cases diagnosed prior to age 6 months, and born ...

Congenital nephrosis is an autosomal recessive disorder requiring neonatal renal transplant for survival. The postnatal diagnosis rests upon the electron microscopic evaluation of the epithelial foot processes and basal membrane of the glomeruli. The prenatal diagnosis can be suspected in the presence of a positive family history with an amniotic ...

We describe 10 cases born to nondiabetic mothers who presented with severe spondylocostal dysostosis (SCD) associated with other anomalies, identified among 20,526 malformed liveborn infants from the Spanish Collaborative Study of Congenital Malformations (ECEMC). We analyze the associated malformations in the 10 cases with severe SCD, as well as in ...

The authors report two cases of neglected bilateral congenital recurvatum of the knee, one in a ten-year-old girl and the other in a 23-year-old man. The treatment of this rare deformity in infancy and childhood is described. A surgical approach to the deformity, which is not known to have been ...

Four babies with congenital listeriosis were diagnosed in the Prince of Wales Hospital in Hong Kong in 1990-1991. Two died in the early neonatal period. The remaining 2 survived and recovered with no sequelae. The clinical and pathological features of these babies, together with those reported in the recent literature ...

Congenital segmental dilatation of intestine is a very rare pathology and up to date less than 50 cases have been reported in literature. Herein we report a case of segmental dilatation of ileum associated to diaphragmatic hernia. The main clinical and pathogenetic aspects are discussed, and the theory of a ...

A child with complete syndactyly of cup shaped hands and mirror polysyndactyly of the feet, together with a nasal defect, was identified out of a total of 1,031,439 livebirths. She had a pattern of multiple congenital anomalies which was similar to that first described by Laurin et al in 1964 ...

Fryns syndrome is a lethal, autosomal recessive syndrome of multiple congenital anomalies described by Fitch et al. in 1978 and Fryns et al. in 1979. As originally described, the major diagnostic criteria included abnormal facies; small thorax with widely spaced, hypoplastic nipples; distal limb and nail hypoplasia; and diaphragmatic hernia ...

Congenital ulnar pseudarthrosis is a very rare condition. Two cases are reported in addition to 36 already reported in the English literature. One of the cases reported had a "one-bone forearm" procedure done, with a satisfactory result after 6 years. The second case had a free vascularized fibula graft procedure ...

Recent advances in medicine and biomedical science have brought in their wake a whole array of moral, ethical and medico-legal problems. For eg, in relation to the withholding or withdrawal of treatment of neonates born with congenital malformations. While the technology to treat and thus to artificially prolong life is ...

This report reviews 12 cases of congenital cholesteatoma of the middle ear, mastoid, and petrous pyramid seen mostly in adult and older juvenile patients between 1984 and 1992. Featured herein are two unique instances of purulent discharge external to an intact tympanic membrane via a fistula caused by extensive mastoidal ...

A few cases of congenital scoliosis due to segmentation failure have so far reported and the antenatal detection of pure congenital kyphosis without scoliosis due to segmentation failure has not been reported. We report the first prenatal identification using ultrasound of a fetus affected with pure congenital kyphosis due to ...

Adult presentation of congenital cystic adenomatoid malformation(CCAM) of the lung is so rare that only 5 cases have been reported in the literature to date. We report the case of a 19-year-old female with CCAM in the left lower lobe. Computed tomography showed a multilobulated cystic lesion with multiple air-fluid ...

This report describes the cases of two young female patients with congenital dyserythropoietic anaemia (CDA) type I who presented similar hand and foot skeletal abnormalities: lack of distal phalanges and nails, and syndactyly. Up to now, some morphological malformations have been described in association with CDA type I but there ...

Congenital symmetrical interdigital hyperkeratosis is a rare disorder described by Frei in 1923, characterized by localized hyperkeratosis of the interdigital spaces of the hands and feet. The authors report the case of a 7-year-old girl affected by this condition. The skin hyperkeratotic lesions appeared localized exclusively to the interdigital spaces ...

A population-based and validated data set of 195 cases with isolated terminal transverse-type congenital limb deficiency was evaluated in Hungary, 1975-1984. Terminal transverse types of congenital limb deficiency are not usually associated with non-limb defects, and typically only one limb is affected. Upper limb is more frequently affected than lower ...