Congenital absence or unusual patterns of human dermatoglyphs (fingerprints) occur in several syndromes that are rare and poorly understood. The abnormalities of dermatoglyphs fall into four categories: complete absence, ridge hypoplasia, ridge dissociation, and ridges-off-the-end. Complete congenital absence of ridges is an exceedingly rare syndrome that consists of neonatal blisters ...

Congenital dislocation of the radial head is a well-recognized entity occurring either as an isolated abnormality or in association with multiple syndromes. Bilaterality has been a criterion for diagnosis of an isolated congenital dislocation of the radial head, with unilaterality regarded as an acquired lesion. A retrospective review of isolated ...

Recently, we evaluated a 27-month-old boy with congenital generalized nonspecific myopathy, Möbius sequence, Robin sequence, and failure to thrive. We think the child has the same entity described by Carey, Fineman, and Ziter in 1982 [J Pediatr 101:353-364] and as such represents only the third example of this unusual syndrome. ...

Congenital kyphosis and atlantoaxial dislocation in a 13-year-old boy was treated by a C1 laminectomy and C2-C5 laminoplasty with fusion from the occiput to C2. This resulted in postoperative neurologic deterioration, but a secondary anterior C3 vertebrectomy followed by a C2-C5 fusion helped restore neural function. In the presence of ...

The clinical manifestations of 88 children with congenital constriction band syndrome involvement of the hand were reviewed. Seventy-five of these children had evidence of digital or limb amputations, with 235 upper limb amputations and 138 lower limb amputations. In the hand, digital amputations were most common in the index, middle, ...

Almost all types of congenital duplication described in humans have been observed in food animals, and a number are illustrated in this article. Congenital duplications, especially conjoined symmetric twins, are relatively common defects in cattle. The incidence is less in sheep and in hogs, and they appear to be rare ...

Congenital cutis laxa is a deforming disease that may present for plastic surgical consultation during childhood. Failure to differentiate cutis laxa, with near normal wound healing, from the other forms of hyperelasticity syndromes with poor wound healing, has historically led to conflicting recommendations regarding the surgical management of patients presenting ...

We describe a boy with manifestations of Joubert syndrome, Leber congenital amaurosis, and multicystic kidneys. In infants with unexplained neonatal tachypnea and late developmental delay, absence or hypoplasia of the cerebellar vermis should be sought. Joubert syndrome probably is an autosomal recessive disorder. In the subsequent pregnancy of the propositus' ...

The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facies, skeletal manifestations and congenital hydronephrosis. We report an infant with characteristic findings who had bilateral congenital megacalyces. Congenital megacalyces is believed to be a developmental abnormality, occurs in other malformation syndromes and has not previously been described in ...

Apert syndrome is a congenital disorder consisting primarily of deformities of the skull, hands, and feet. These individuals are also prone to severe acne, particularly involving the upper arms and forearms. Conventional therapy is often ineffective. We report the successful use of isotretinoin for acne in a patient with Apert ...

Seven eyes of six patients with anterior polar congenital cataract were examined. All patients presented with corneal astigmatism greater than 1.50 diopters. The combination of these two anomalies has often been responsible for amblyopia and occasionally for squint. The association of corneal astigmatism with this type of congenital cataract is ...

Congenital Rubella affects the eye in many ways. Ocular effects can be found in the lens, retina, ciliary body and cornea. Ocular manifestations of the Congenital Rubella Syndrome are congenital cataracts, microphthalmos, pigmentary retinopathy, strabismus, and glaucoma. While surgical and medical treatment is utilized for these conditions, the need for ...

We report the case of a 22 year old woman with congenital generalized lipodystrophy who presented a left brachiocrural pyramidal hemisyndrome, bilateral cerebellar signs and a left cranial nerve VI deficit. The clinical pattern had a tendency to regress. MRI brainscan, CSF examination and clinical features led to the diagnosis ...

PIBI(D)S is a acronym for a very rare autosomal recessive syndrome consisting of photosensitivity, mild non-congenital ichthyosis, brittle cystine-deficient hair, impaired intelligence, occasionally decreased fertility and short stature. We report a 12-year-old female patient affected by PIBI(D)S with previously unreported MRI findings of central nervous system dysmyelination.

We describe a brother and sister and an unrelated boy with congenital cerebellar hypoplasia and endosteal sclerosis. All 3 children presented with ataxia and developmental delay, and were found to have microcephaly, short stature, oligodontia, strabismus, nystagmus, and congenital hip dislocation. A previously published case is reviewed. The disorder appears ...

We report a case of unilateral buphthalmos in neurofibromatosis-1 without the other classical characteristics of the François syndrome (triad of unilateral buphthalmos, homolateral eyelid plexiform neuroma, and homolateral facial hemihypertrophy) and emphasize the difficulties in early diagnosis. The painful buphthalmic right eye was enucleated at the age of 13 months. ...

The cause of the Williams Campbell syndrome (bronchomalacia with bronchiectasis) is controversial. A boy with bronchomalacia, bifid ribs, and left bronchial isomerism presented with intractable wheeze mimicking asthma. The combination of the abdominal, bronchial, and atrial anatomy seen in this child has been described only once previously. The coexistence of ...

The occurrence of a Wilms tumour in a 4-year-old girl with bilateral medullary sponge kidney. Beckwith-Wiedemann syndrome and congenital hemihypertrophy demonstrates the close relationship between these disorders. Another six cases from the literature with congenital hemihypertrophy and with medullary sponge kidney are discussed, two of them also developed intraabdominal neoplasm.

A report is presented of a 45 day old female infant with congenital amputation of the great toe, complete constriction bands of the lower leg and fingers all of which are explained by congenital amniotic band syndrome. There is a brief review of the literature on the pathology and possible ...

Neuroimaging observations of three infants with congenital rubella syndrome are reported. We have observed congenital rubella syndrome lesions in the subependymal area, the basal ganglia and the deep white matter. Cranial ultrasonography defines subependymal cysts, calcification and possible vascular changes in the basal ganglia while MRI is the most sensitive ...

The clinical course of two female siblings with congenital muscular dystrophy is briefly described, and includes congenital cerebral malformations consisting of pachygyria, polymicrogyria and white matter abnormalities. The first sibling died in infancy; the second is now 18 years of age. The changes found at autopsy in the first sibling ...

Seven patients with congenital anosmia underwent detailed chemosensory evaluation, followed by the performance of biopsies of the olfactory region. Olfactory epithelium was not found in any of the biopsy specimens. It appears therefore that patients with congenital anosmia lack any olfactory epithelium. Several possible explanations for this finding are discussed. ...

We describe a rare form of congenital snapping knee. In six knees in four children, the tibia subluxed anteriorly on the femur when the knee was extended and reduced spontaneously on flexion. The abnormal movements were seen and felt as sudden snaps or clunks at about 30 degrees of flexion. ...

A newly recognized autosomal dominant inherited syndrome associated with congenital conductive deafness, hyperopia, broad thumbs, broad first toes, short distal phalanges, and syndactyly is reported. The conductive loss was the result of congenital stapes ankylosis and, in two cases, was associated with ankylosis of the short process of the incus ...

A 33 year old woman with mental deficiency, retinitis pigmentosa, obesity, and parental consanguinity (heredity) was diagnosed as having Laurence-Moon-Biedl syndrome. She also had diabetes mellitus, slight hepatic dysfunction, and hepatomegaly. Liver biopsy showed perilobular fibrosis and bile duct proliferation with cystic dilatation; these findings are consistent with those of ...

The numbers of young adults with Down's syndrome is currently increasing due to improvements in survival and a period of increased incident numbers in the 1960s. Deaths from infection have shown the largest decline. Forty-one per cent of survivors suffer from one or more serious morbid conditions, principally congenital heart ...

A case of concordance for unilateral congenital ptosis in monozygotic twins is presented. The literature on genetics and congenital ptosis is reviewed. A heritability index is calculated for congenital ptosis, based on all current twin data including the present report. A value for the heritability index of 0.75 is found, ...

Numerous morphologic features have been described in bone marrow and peripheral blood in myelodysplastic syndrome (MDS). We draw attention to a high incidence of a subtle morphologic feature, internuclear bridging (INB), not previously recognized as a morphologic feature in MDS. The occurrence of INB in MDS suggests an underlying abnormality ...

A child with congenital ocular fibrosis syndrome and oculocutaneous albinism displayed two distinct neural misdirection syndromes: synergistic divergence and Marcus Gunn jaw winking. This and other reported cases of misdirected innervation in patients with congenital fibrosis syndrome suggest that normal neuronal connections fail to become established early in development and ...

A newborn with Down's syndrome complicated by complete atrioventricular (AV) block, despite normal cardiac anatomy, is described. The congenital AV block was diagnosed in utero, and the characteristics of Down's syndrome were recognised after birth. Pitfalls in antenatal diagnosis and management of complete AV block in the fetus are briefly ...

Twenty-five cases of congenital rubella syndrome were recorded in 1,458,126 live births in 19 EUROCAT birth defects registries from 1980 to 1986. During the study period, the incidence declined steadily from 3.50 to 0.41 per 100,000 births. Rubella infection occurred in 12 multiparous women indicating failure in immunization programme.

A mother who had given birth to a child with Schwartz-Jampel syndrome (SJS) with neonatal manifestations (myotonia, congenital contractures, bowing of femora and tibiae) underwent ultrasonic fetal examination during the 17th and 19th week of her second pregnancy. Moderately decreased fetal motor activity and constant flexion of the fingers were ...

The National Congenital Rubella Syndrome Registry, a passive surveillance system, and the Birth Defects Monitoring Program, a newborn hospital discharge data set, are used to monitor the incidence of congenital rubella syndrome in the United States. Reports to the registry contain clinical and laboratory data which allow cases to be ...

Between May 1955 and July 1987, 33 children with a vascular ring compression syndrome were treated at this institution. There were 4 iatrogenic, 2 unexpectedly found and 27 symptomatic congenital vascular rings. Accurate diagnosis is based on a water soluble iodine contrast dye oesophagogram, bronchoscopy and angiography which are complementary ...

The effect of anticholinesterase drugs on the clinical and electrophysiological features in a canine congenital myasthenic syndrome is compared with findings in acquired myasthenia gravis in dogs. Anticholinesterase treatment had no effect on muscle weakness or electrophysiological parameters in the congenital myasthenic syndrome in contrast to its effect on clinical ...

Three children developed the congenital varicella syndrome following a maternal varicella infection during the second trimester of pregnancy. Systemic findings included a bulbar palsy, mild hemiparesis, cicatricial skin lesions, developmental delay, and learning difficulties. Ocular findings included chorioretinitis, atrophy and hypoplasia of the optic discs, a congenital cataract, and Horner's ...

Two newborns with congenital rubella syndrome are reported. Cranial sonography demonstrated bilateral cystic lesions in the subependymal germinal matrix. Congenital rubella and cytomegalovirus (CMV) infections are the most common proven causes of subependymal cysts of nonhaemorrhagic origin in the newborn. The sonographic detection of these cysts should prompt an intensive ...

Congenital aponeurotic ptosis is the result of a failure of the distal end of the aponeurosis to attach in the usual position. There is a ptosis of varying degree disproportionate to the amount of levator function. Unlike dystrophic congenital ptosis, the amount of levator function is good, usually exceeding 9 ...

We examined six patients with Gardner's syndrome, eight first-degree relatives, and 31 age- and sex-matched controls to document the presence, distribution, and morphologic features of congenital hypertrophy of the retinal pigment epithelium. Patients with Gardner's syndrome had multiple, bilateral lesions, with 288 of 346 foci (83%) located posterior to the ...

Pyruvate dehydrogenase deficiency is among the most common causes of congenital lactic acidosis. We describe siblings with congenital lactic acidosis due to a deficiency of pyruvate dehydrogenase complex. The findings of computed tomography and pathologic studies suggest that central nervous system damage had occurred in utero. These observations have implications ...

The need for a reliable screening test for classical congenital adrenal hyperplasia prompted development of newborn screening programs. Worldwide incidence of classical congenital adrenal hyperplasia in this report was taken from newborn screening programs in France, Italy, Japan, New Zealand, Scotland, and the United States. Two populations in which the ...

The annual number and incidence of congenital rubella syndrome (CRS) in Poland was evaluated by means of a methematical model and on the basis of serological studies. In its principles this model describes the infectious kinetics of rubella by the formula y = 1--e-at, where "y" is the rate of ...

The authors report a rare case of congenital Budd-Chiari syndrome in a twenty-eight-year-old male mongoloid. The patient was submitted to azygous-portal disconnection, because of the syndrome of portal hypertension supposedly due to cirrhosis of the liver. He died of hemorrhage of the liver on the third postoperative day. Autopsy revealed ...

Two children with a congenital Cornelia de Lange syndrome and a verified sensorineural hearing loss are presented. One could be tested by conventional audiometry, the other only with the help of the newer computerized electronic methods. A short review of some earlier reports on congenital hearing loss in this syndrome ...

We have presented a case of medullary sponge kidney associated with congenital hemihypertrophy. Evaluation by calcium loading revealed no abnormal handling of this ion. The recognition of this unusual syndrome is important because it appears that other disease processes common to medullary sponge kidney alone or congenital hemihypertrophy alone do ...

Morphologic study of the brain from a retarded patient with progressive congenital hydrocephalus revealed widespread neurofibrillary tangles in the cerebral cortex and the brain stem. Senile plaques were not found. The tangles consisted of paired helical filaments. Scanning electron microscopic energy spectrometric analysis failed to demonstrate abnormal accumulation of aluminum ...

A neonatal boy with cleidocranial dysostosis presented with congenital pseudarthrosis of the tibia. Clinical observation later revealed he also had osteogenesis imperfecta. The osteogenesis imperfecta was classified as Type I and the congenital tibial pseudarthrosis as Type II. Cleidocranial dysostosis, osteogenesis imperfecta, and congenital pseudarthrosis of the tibia have not ...

Two unrelated boys with congenital adrenal hypoplasia and glycerol kinase deficiency were found to have similar features, including characteristic facies, testicular abnormalities, short stature, psychomotor retardation, and muscular dystrophy. The resemblance of these boys to other patients described in the literature suggests that a distinct phenotypic syndrome occurs in children ...

Two young patients were referred recently to the authors for investigation of a peroneal atrophy syndrome. Since the first symptoms were observed in infancy, a congenital hypomyelination neuropathy was suspected, and superficial peroneal nerve biopsies were taken. Signs of severe and widespread demyelination/remyelination were observed. These features appeared morphologically similar ...

This addition to the classification of myopathies is a result of the improved diagnostic techniques in muscle pathology in recent years, largely through the application of electronmicroscopy and histochemistry. After summarizing the clinical picture, the authors call for classification: (1) Congenital myopathies due to developmental arrest: myotubular myopathy, congenital fiber ...