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Results 301 - 350 of 788
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Silengo M - - 2001
We report on two sisters, one 46,XX with normal female phenotype, the other 46,XY with ambiguous external genitalia and agonadism. Both have a low birth weight and microcephalic malformation syndrome leading to early death. The 46,XX patient also had a diaphragmatic defect. The XY sister, in addition to absence of ...
Larralde M - - 2001
Pseudo-Kaposi sarcoma with vascular malformation (Stewart-Bluefarb syndrome) is an uncommon and important entity characterized by congenital arteriovenous malformation and skin lesions that may resemble Kaposi sarcoma. This is usually seen in the lower limb of young people. We report a case of this syndrome in a 17-year-old boy who had ...
Acosta J M - - 2001
Prenatal exposure to nitrofen is known to cause multiple malformations in mice. The reported malformations include lung hypoplasia, diaphragmatic hernia, cardiovascular defects, skeletal malformations, cleft palate, and renal abnormalities. The authors present detailed findings of craniofacial defects after prenatal exposure to nitrofen, and propose that together with the previously reported ...
Guschmann M - - 2001
The present report describes two fetuses, one female and one male, with thus far undescribed skeletal malformations. The mother was a gravida 2, para 0. Both pregnancies were terminated in the second trimester because of multiple congenital anomalies diagnosed ultrasonographically resembling a short rib-polydactyly syndrome. Both fetuses were found to ...
Priolo M - - 2001
Craniosynostosis is determined by the precocious fusion of one or more calvarial sutures leading to an abnormal skull shape. Additionally, nodular heterotopia is a disorder of neuronal migration and/or proliferation. We describe a very rare multiple congenital anomalies (MCA) syndrome in which craniosynostosis is associated with bilateral periventricular nodular heterotopia ...
Ohaegbulam S C - - 2001
Dandy-Walker syndrome (DWS) is characterized by cystic dilatation of the 4th ventricle and absence of the cerebellar vermis. There may also be posterior fossa enlargement, hydrocephalus, hypoplastic cerebellar hemispheres and other malformations within and outside the central nervous system (CNS). The condition is uncommon, and the incidence is unknown. We ...
Michailidis G D - - 2001
Scimitar syndrome is a rare malformation of the arterial supply and venous drainage of the lung. We report the case of a fetus that presented with cardiac asymmetry and malposition of the fetal heart. Postnatally, scimitar syndrome was confirmed at cardiac catheterization. Retrospective reconstruction of three-dimensional power Doppler volumes, obtained ...
Capovilla G - - 2001
Seckel's syndrome is a rare form of primordial dwarfism, characterized by peculiar facial appearance. In the past, this condition was overdiagnosed, and most attention was given to the facial and skeletal features to define more precise diagnostic criteria. The presence of mental retardation and neurologic signs is one of the ...
Imai T - - 2001
We describe a five-month-old male infant with Coffin-Siris syndrome, the so-called Dandy-Walker variant (hypoplasia of the cerebellar vermis with cystic dilatation of the fourth ventricle, but without enlargement of the posterior fossa), and partial agenesis of the corpus callosum. Dandy-Walker malformation and mega cisterna magna, but not Dandy-Walker variant, have ...
Pierson D M - - 2001
We report on a newborn male born to non-consanguineous parents with total anomalous pulmonary venous connection (TAPVC) and additional findings of malformed ears, hypertelorism, brachyphalangy in the hands, pterygium of the elbows, knees, and wrists, complex lower limb pre-axial polydactyly, tibial shortening, clubfeet, horseshoe kidney and a micropenis. He had ...
Bhattacharya J J JJ Institute of Neurological Sciences, Southern General Hospital; Glasgow, UK - - - 2001
The diagnosis of Bonnet-Dechaume-Blanc or Wyburn-Mason syndrome encompasses a spectrum of phenotypic expression. Features of the syndrome as originally described, and common to all, include arteriovenous malformations of the brain and orbit (with retinal and/or retrobulbar lesions). A portion of these patients manifest the complete expression of the disease with ...
Amiel J - - 2001
The acronym CHARGE defines a non-random clustering of congenital malformations of unknown origin. Classical diagnostic criteria include: 1) one major feature namely coloboma/microphthalmia or choanal atresia, and 2) four of the six features designated in the CHARGE acronym. Interestingly, all CHARGE patients hitherto reported had partial or complete semicircular canal ...
Mandel K - - 2001
Noncompaction of the ventricular myocardium, sometimes referred to as "spongy myocardium", appears as excessive and prominent trabeculations and deep intratrabecular recesses within the ventricular wall, usually involving the left ventricle, although the right ventricle and interventricular septum can also be affected. It may occur with or without additional heart malformations. ...
Kantaputra P N - - 2001
A Thai man with Laurin-Sandrow syndrome (LSS, MIM 135750), the ninth reported case, is described. He had an underdeveloped nasal bone, scar-like seams under the nose, large heads of mandibular condyles, and brachymesophalangy of toes as newly observed findings of the syndrome. He also had mental retardation. The patient had ...
Walsh L E - - 2001
We present a case of a child with del(13) (q31.1qter), VACTERL association, and penoscrotal transposition. Deletion of the distal long arm of chromosome 13 is associated with variable phenotypes. These phenotypes are divided into three clusters; each cluster represents a specific deleted segment of 13q. Individuals with deletions of a ...
Gulcan Y H - - 2001
Cerebrohepatorenal malformation is a rare familial disorder characterized by typical renal lesions combined with Dandy-Walker malformation, and congenital hepatic fibrosis. In this case report, a male premie with the diagnosis of cerebrorenal syndrome or so called Goldston syndrome is presented. Besides the rarity of this syndrome, this case is the ...
Aynaci F M - - 2001
We describe a male newborn with bilateral angle bowing of femora, absent fibulae, aplasia of the fingernails, hypoplastic toenails, malformed thumbs, hypospadias, inguinal hernia and cortical dysplasia in a consanguineous Turkish Family. The MCA syndrome in the present patient is similar to these reported in 3 affected sibling by Fuhrmann ...
Küker W - - 2000
Congenital bilateral perisylvian syndrome (CBPS) is a syndrome of cortical malformation characterized by faciopharyngoglossomasticatory diplegia. We report on two cases of CBPS with associated esophageal malformations and a poor mental and motor development. The association of CBPS and esophageal malformations may indicate a subgroup of patients with a very early ...
Elmaci I - - 2000
A rare cause of acute visual loss due to a chiasmal cavernous malformation is presented. Acute visual loss was due to local hemorrhage and volume expansion of the cavernous malformation inside and outside of the optic chiasma. This unique location of cavernous malformation is associated with a risk of permanent ...
Cambiaghi S - - 2000
Delleman syndrome is a rare disorder characterised by orbital cysts, micro/anophthalmia, malformations of the central nervous system, focal aplasia cutis, and multiple skin appendages (oculocerebrocutaneous syndrome). Although cutaneous findings provide the main clues for the diagnosis, the syndrome has received little attention in the dermatological literature. A new case of ...
Walch E - - 2000
We present clinical and neuropathological findings in a female infant with Yunis-Varon syndrome (YVS) comprising absence of thumbs and halluces, aphalangia of fingers and toes, hypoplasia of clavicles, severely undermineralized skeleton (especially skull), microcephaly, and multiple nonskeletal anomalies. The patient also had a Dandy-Walker malformation, hydrocephalus, and hypertension, which were ...
Dahlstrom J E - - 2000
Joubert syndrome is an autosomal recessive disease characterised by hypoplasia or agenesis of the cerebellar vermis, a syndrome of episodic apnoea-hyperpnoea, rhythmic protrusion of the tongue, abnormal eye movements, hypotonia, ataxia, and psychomotor retardation. Extracerebral malformations include multicystic kidney disease, congenital hepatic fibrosis, sacral dermoid cyst and polydactyly. We report ...
Sergi C - - 2000
Meckel syndrome (MIM 249.000) is an autosomal recessive disorder with a variable spectrum of anomalies. Since the first reports of this syndrome, very broad diagnostic criteria have been proposed, but the process of defining them continues. It is probable that at least two of three manifestations, including cystic kidney dysplasia, ...
Priolo M - - 2000
We report a boy with prominent, peculiarly malformed ears, abnormality of the ramus of the mandible and hypotonia. An isolated peculiar bilateral ear deformity named 'question mark ear' has been delineated in plastic reconstruction surgery reviews [Cosman et al., 1970 Plast Reconstr Surg 46:454-457; Cosman (1984) Plast Reconstr Surg 73:572-576; ...
Asano Y - - 2000
Walker-Warburg syndrome (WWS) is an autosomal recessive disorder characterized by type II lissencephaly, cerebellar and retinal anomalies, and congenital muscular dystrophy. We report a female diagnosed with WWS based on clinical criteria. This patient was found to have fetal hydrocephalus on ultrasonography at 29 weeks of gestation, and exhibited severe ...
Griffet J - - 2000
A case is given of a male born with a duplication of the left leg and ipsilateral kidney agenesis. Although the etiology is unknown, we believe this association represents a congenital malformation syndrome. It is a polytopic developmental field defect. The growth factor IGF-I produced by the intermediary mesoderm or ...
Breuning M H - - 2000
Recurrent digital fibroma of infancy generally is considered a sporadic tumor of childhood. We describe the case of a mother with recurrent digital fibroma at a young age who gave birth to a daughter with focal dermal hypoplasia, coloboma of the iris and eyelids, anal atresia, and extensive limb malformations. ...
Jansen T - - 2000
Accessory tragus is a fairly common congenital malformation of the external ear. In the vast majority of cases it is an isolated developmental defect not associated with other abnormalities. However, the remote possibility exists that it could be associated with other abnormalities of the first and second branchial arch. Accessory ...
Posnick J C - - 2000
Craniofacial dysostosis is the term applied to familial forms of craniosynostosis in which the sutural involvement generally includes the cranial vault, cranial base, and midfacial skeletal structures. The syndromic forms of craniofacial dysostosis were initially described by Carpenter, Apert, Crouzon, Saethre and Chotzen, Pfeiffer, and others. In addition to the ...
Lynch S A - - 2000
Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently, HLXB9 has been identified as the major causative gene ...
Aguirre-Aquino B I - - 2000
de Morsier syndrome, or septo-optic dysplasia, is a developmental malformation complex characterized by optic nerve hypoplasia, dysgenesis of the septum pellucidum, and hypothalamic-pituitary dysfunction. (1,2) In Duane retraction syndrome, there is absence of the sixth nerve nucleus with congenital retraction of the globe and narrowing of the lid fissure in ...
Sener R N - - 2000
Rhombencephalosynapsis is mainly characterized by fusion of the cerebellar hemispheres and vermian agenesis. We report severe cerebellar hypoplasia, pachygyria of the cerebrum, an isolated (trapped) fourth ventricle, and facial hemangioma in association with this condition. Our findings suggested that the frequency of rhombencephalosynapsis appears to be higher than previously thought ...
Krźelj V - - 2000
Two newborns, one male and one female, from two different families, with Ivemark syndrome proven at autopsy are reported. One of them had asplenia and another had polysplenia. Both newborns had complex cardiac defects with isomerism of the lungs. The newborn with asplenia had dextrocardia, transposition of the great vessels, ...
Pavone P - - 2000
We report on a 3.5-year-old girl with microcephaly, microphthalmia, coloboma of the iris, mild developmental delay, and other minor anomalies. Neuroimaging showed marked cerebellar and vermian hypoplasia. This condition has not been described previously and is discussed in the context of the "micro syndrome," together with other similar syndromes. Our ...
Vaughan J L - - 2000
OBJECTIVE: To assess radiologically the caudal vertebrae of a male alpaca with an abnormal tail, and nine of his offspring. PROCEDURE: Right lateral and ventrodorsal radiographs were taken of the caudal vertebrae. RESULTS: The caudal vertebral abnormalities in these alpacas included vertebral subluxation, hemivertebrae, wedge hemivertebrae and block vertebrae. CONCLUSION: ...
Schauder S - - 2000
The lines of Blaschko represent one of the cutaneous patterns of mosaicism followed by various skin disorders. Developmental abnormalities affecting other tissues derived from the embryonic ectoderm and mesoderm are occasionally associated. We describe a 30-year-old man with depigmented, bilateral hypertrichosis and dilated follicular orifices following Blaschko's lines associated with ...
Sergi C - - 2000
In the developing liver, the complete or partial persistence of the primitive double-layered cylinder of biliary-type cells that surrounds the branches of portal vein and its mesenchyme gives origin to portal tracts with an increased number of bile duct structures. The term "ductal plate malformation of the liver" was coined ...
Muranjan M N - - 2000
Reported below is the association of unusual hand malformations and congenital cardiac anomalies, possibly a variant of Heart--Hand syndrome IV in a 10 year old male. In addition to these malformations, he also had genitourinary defects. The differential diagnosis of polydactyly with cardiac defects is discussed along with a review ...
ten Donkelaar H J - - 2000
Joubert's syndrome is a relatively rare, autosomal-recessive syndrome defined by vermis hypoplasia, hypotonia, developmental delay and at least one of two additional manifestations: abnormal breathing pattern or abnormal eye movements. Detailed descriptions of the neuropathological findings in this syndrome are scarce. We present a radiological and pathological correlation of a ...
Ohtakara K - - 2000
A 21-year-old female presented with an unusual case of posterior fossa arteriovenous malformation (AVM) associated with ipsilateral persistent primitive trigeminal artery (PPTA), manifesting as intraparenchymal hemorrhage involving both the brain stem and the left cerebellar hemisphere. The presenting symptoms were compatible with Wallenberg's syndrome and Foville's syndrome on the left ...
Manouvrier S - - 2000
We describe a multiple congenital anomalies (MCA) syndrome dominantly transmitted through three generations. Radial ray abnormalities with wide variability of expression were observed in four female patients. Moreover, a 14-week-gestation male fetus had severe radial ray malformation, anencephaly, unilateral renal agenesis, and a common dorsal mesentery. Results of high-resolution karyotyping ...
Glaessl A - - 2000
BACKGROUND: We present the case of a 32-year-old woman with a large recurrent multifocal basal cell carcinoma on the scalp. Conspicuous accompanying symptoms were multiple periorbital milia, hypotrichosis of the body and the scalp, and hypohidrosis. The sparse hair of the scalp showed further abnormalities such as pili torti, as ...
Tekin M - - 2000
The ophthalmo-acromelic syndrome of Waardenburg is an autosomal recessive trait comprising eye malformations ranging from true anophthalmia to mild microphthalmia with acromelic malformations. Some 29 affected individuals have been reported since Waardenburg's first report in 1935 [Waardenburg et al., 1961]. We report on a new case with bilateral anophthalmia and ...
Reddy P - - 2000
Dandy-Walker syndrome, a congenital malformation of the hindbrain involving the cerebellum and the fourth ventricle, is a rare cranial abnormality that commonly occurs before the sixth or seventh week of development. It is usually diagnosed at birth or in early childhood; however, an occasional patient may first become symptomatic in ...
Dufke A - - 2000
Wolf-Hirschhorn syndrome (WHS) is a multiple malformation syndrome caused by partial monosomy of 4p16.3. Pitt-Rogers-Danks syndrome, first thought to be a distinct entity, is a similar condition associated with a microdeletion overlapping the WHS critical region. In this paper we evaluate three WHS patients showing a microdeletion of 4p and ...
Tanaka Y - - 1999
We report a Japanese girl with the Conradi-Hünermann form of chondrodysplasia punctata and anterior segment malformations characteristic of Axenfeld-Rieger syndrome. The patient also had cataracts and unilateral optic atrophy. A possible role for homeobox-containing genes in the etiology of this type of chondrodysplasia punctata is suggested as an explanation for ...
Satran D - - 1999
Cerebellar vermis hypoplasia (CVH) is part of many different malformation syndromes, especially Joubert syndrome. However, the nosology of these disorders remains uncertain. We reviewed reports of 100 children with cerebellar vermis hypoplasia, and ocular or renal involvement. Although the status of the upper brainstem was not adequately documented in most ...
Rittinger O - - 1999
A case of Schinzel-Giedion syndrome, a rare malformation syndrome with a life expectancy of less than 2 years is described. Features present in this and previous cases are discussed. The association of agenesis of the corpus callosum with the Arnold-Chiari malformation found in this patient has not previously been described.
Hung P C - - 1999
A Taiwanese infant with clinically apparent oto-palato-digital syndrome type II had Arnold-Chiari I malformation. Arnold-Chiari I malformation has not been reported previously to occur in association with oto-palato-digital type II syndrome. The pathogenesis of both conditions has remain unclear although the Arnold-Cliari I malformation is most likely due to a ...
Miyamori T - - 1999
A neonate presented with Dandy-Walker syndrome manifesting as a large posterior cranial fossa cyst, aplasia of the lower cerebellar vermis, and elevation of the confluence of the sinuses but without hydrocephalus. A cystoperitoneal shunt was placed at one month after birth. The cyst diminished in size, and marked development of ...
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