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At least 73 records · Page 4Linked to original sources
PubMed1979

Multiple bladder diverticula in Williams "Elfin-Facies" syndrome.

Twenty-three children with Williams "elfin-facies" syndrome were reviewed. A striking incidence of multiple bladder diverticula was found (8 children of 14 who had voiding cystourethrograms). The diverticula were usually not identifiable on excretory urography. Children generally have a low incidence of bladder diverticula (excluding "Hutch" diverticula), especially multiple diverticula; thus one should strongly consider the diagnosis of Williams syndrome and other connective tissue diseases when multiple bladder diverticula are identified.

Abnormalities, Multiple↗
PubMed2002

Additional malformations in femoral hypoplasia: unusual facies syndrome.

This syndrome comprises of bilateral femoral hypoplasia and unusual facies comprises of short nose with broad tip, elongated philtrum, thin upper lip, small lower jaw, cleft palate and antimongolian slant of palpebral fissure. Etiology is idiopathic, sporadic, few families have been reported to have autosomal dominant inheritance. We report a case with the additional finding of unilateral complete aplasia of femur, encephalocele, complete cleft lip, bilateral absence of 5th metatarsal and toe and hypospadias. The mode of inheritance appears to be sporadic mutation in this case.

Abnormalities, Multiple↗
PubMed1997

Osteopathia striata, short stature, and characteristic facies: a previously unknown skeletal dysplasia.

UNLABELLED: We report two sporadic cases of a hitherto undescribed skeletal dysplasia with short stature and characteristic facies. The present patients, a 6-year-old girl and a 15-year-old boy, were almost equally affected. Craniofacial anomalies included a sloping forehead, bitemporal bulging, sparse medial eyebrows, a prominent nasal bridge, hypertelorism, proptosis, a beaked nose, hypoplastic alae nasi and a pointed chin. Shallow orbits, short anterior cranial fossae and bitemporal bossing found on skull radiograph corresponded with the facial dysmorphism. Thickening of the dorsum sellae was another hallmark in the skull. Skeletal survey revealed mild osteopenia, interpediculate narrowing of the lumbar spine with short neural arches and, most important, osteopathia striata of the long tubular bones. There was no sclerosis of the craniofacial bones. The clinical and radiological findings in the present patients were overall inconsistent with those of previously known skeletal dysplasias and congenital malformation syndromes, which possess osteopathia striata as a cardinal feature. CONCLUSION: The unique clinical and radiological constellation of our patients constitutes a hitherto unknown bone dysplasia.

Adolescent↗
PubMed1975

Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur.

Among 30 children with hepatic ductular hypoplasia and normal extrahepatic bile ducts, 15 formed a hemogeneous, readily recognizable group. In addition to chronic cholestasis, they have characteristic facies, a mesosystolic murmur, vertebral arch defects, growth retardation, mental retardation, and hypogonadism. Typical biochemical and histologic features aid in differentiation of this group from patients with other varieties of biliary disease.

Abnormalities, Multiple↗
PubMed1981

Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.

A previously unrecognized mental retardation malformation syndrome was observed in five unrelated Japanese children. Consistent clinical features included moderate-to-severe mental retardation, progressive dwarfism of postnatal onset, a peculiar facies characterized by long palpebral fissures, with eversion of the lateral third of the lower eyelids, arched eyebrows, broad and depressed nasal tip, large prominent earlobes, short fifth fingers, abnormal dermatoglyphics including absence of digital triradius c or d, and frequent otitis media in infancy. Inconsistent abnormalities included epicanthal folds, cleft or high-arched palate, widely spaced teeth, low occipital hair line, scoliosis, and dislocation of the hip joint. Neither familial occurrence nor parental consanguinity was noted. The etiology of the malformation syndrome remains unknown.

Abnormalities, Multiple↗
PubMed1981

Abnormal facies, cleft palate, and generalized dysostosis: a lethal X-linked syndrome.

Four boys of the same family (three first cousins and their uncle) had the same syndrome of multiple malformations. They had hypertelorism, antimongolian slant of the palpebral fissures, low-set ears, and Pierre Robin syndrome. The ossification of the skull vault was defective, with broad sutures and fontanelles. The ribs were sinuous, the clavicles were long, thin, and sloping, and the vertebrae were flattened. There were abnormal bowing with hyperostosis of the long bones, faulty ossification of the bones of hand and feet, and "fanned-out" toes. The disorder was lethal within a few weeks. The karyotype was normal. The mothers of affected boys had a mild form of the same abnormal facies. Transmission of this disorder appears to be linked to the X chromosome.

Abnormalities, Multiple↗
PubMed1983

Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers.

Three children with the femoral hypoplasia-unusual facies syndrome are described. Two had the characteristic facial pattern of upslanted palpebral fissures, long philtrum with thin upper lip, micrognathia, and hypoplastic alae nasi. The other, an infant girl who died within 24 hours after birth, had a cleft lip, which distorted some of the other features. She also had a cleft palate, as did one of the two older boys. All three children had ear defects, upper limb involvement, and rib, vertebral, lower extremity, and genitourinary tract abnormalities. The infant girl died of lung hypoplasia associated with dysplastic kidneys and widely patent ductus arteriosus. All three were infants of diabetic mothers, one mother having developed overt diabetes in the first trimester of pregnancy. A literature review of 36 reported cases of FH/UFS revealed 12 individuals who were IDMs, establishing a strong relationship of the syndrome with maternal diabetes. A multifactorial inheritance model fits with the reported patients, with the relationship to diabetes, and with the similarity of FH/UFS to caudal regression, another condition related to maternal diabetes.

Abnormalities, Multiple↗
PubMed2005

Mesozoic Alpine facies deposition as a result of past latitudinal plate motion.

The fragmentation of Pangaea as a consequence of the opening of the Atlantic Ocean is documented in the Alpine-Mediterranean region by the onset of widespread pelagic sedimentation. Shallow-water sediments were replaced by mainly pelagic limestones in the Early Jurassic period, radiolarian cherts in the Middle-Late Jurassic period, and again pelagic limestones in the Late Jurassic-Cretaceous period. During initial extension, basin subsidence below the carbonate compensation depth (CCD) is thought to have triggered the transition from Early Jurassic limestones to Middle-Late Jurassic radiolarites. It has been proposed that the transition from radiolarites to limestones in the Late Jurassic period was due to an increase in calcareous nannoplankton abundance when the CCD was depressed below the ocean floor. But in modern oceans, sediments below the CCD are not necessarily radiolaritic. Here we present palaeomagnetic samples from the Jurassic-Cretaceous pelagic succession exposed in the Lombardian basin, Italy. On the basis of an analysis of our palaeolatitudinal data in a broader palaeogeographic context, we propose an alternative explanation for the above facies tripartition. We suggest that the Lombardian basin drifted initially towards, and subsequently away from, a near-equatorial upwelling zone of high biosiliceous productivity. Our tectonic model for the genesis of radiolarites adds an essential horizontal plate motion component to explanations involving only vertical variations of CCD relative to the ocean floor. It may explain the deposition of radiolarites throughout the Mediterranean and Middle Eastern region during the Jurassic period.

Journal Article↗
PubMed2006

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.

Ulnar-mammary syndrome (UMS) is a rare autosomal-dominant disorder caused by mutations in TBX3. The condition is characterized by hypoplasia or aplasia of upper limbs on the ulnar side, mammary glands and nipples, and of apocrine glands in both sexes (MIM #181450). We report on a girl presenting with an UMS like phenotype, a dysmorphic facies, and mental retardation. Mutation analysis of TBX3 and G-banded chromosome analysis from lymphocytes were performed. We used microarray-based comparative genomic hybridization (array CGH) to investigate the patient's genomic DNA for submicroscopic aberrations. No mutation of the TBX3 gene was detected in our patient and chromosome analysis revealed a normal female karyotype (46,XX). Hybridization of a whole-genome tiling path array consisting of more than 36 000 BAC clones revealed an interstitial 1.28 Mb deletion within chromosomal band 12q24.21. The deleted region encompasses one known gene, TBX3. The deletion and haploinsufficiency of TBX3 was confirmed by fluorescence in situ hybridization using BAC clones representing the deletion on the BAC array. To our knowledge, this is the first description of TBX3 haploinsufficiency caused by a genomic deletion in a patient with UMS. We suggest that the UMS phenotype in conjunction with the characteristic facial changes and mental retardation observed in our patient is owing to the deletion of TBX3 and the involvement of neighbouring genes.

Abnormalities, Multiple↗
PubMedDate not supplied

[Spatial orientation of the facies patellaris femoris].

The present article reports on the geometrical conditions of the physiological movement of the patella. The geometrical shape of 18 femoral condyles and patella sliding areas was investigated in order to describe basic data for the design of endoprostheses. Surface and direction of the facies patellaris femoris were determined by means of radiographic, mechanical and optical measurements. The curvature of the deepest patella sliding groove proves a constant correlation with the dorsal condylar curvature. In the frontal plane the lowest points of the sliding area run with a dispersion of +/- 4 degrees to the vertical line related to the transverse tangent on the dorsal condylar surface. Considering deviations of leg alignment the measures come close to an angle of about 0 degrees. So the direction of the patella sliding groove differs from the normal valgus position of the distal femur. Therefore in artificial knee replacement a lateral tilt of the patella sliding groove should not be propagated as 'physiological'.

Biomechanical Phenomena↗
PubMed2003

Cortical dysplasia, temporal atrophy, mental retardation, dysmorphic facies, and partial epilepsy: an EEG and dynamic susceptibility contrast (DSC) MRI study in a new possible genetic syndrome.

We report the case of a 24-year-old female with partial epilepsy, mental retardation, and dysmorphic facies. In EEG, a high spiking rate (HSR) was evident with abnormalities in the right frontal region. Morphological MRI showed a left temporo-mesial sclerosis and a cortical dysplasia localized in the right frontal cortex. Dynamic susceptibility contrast (DSC) MRI showed hyperperfusion in right frontal region and hypoperfusion in left fronto-temporal region. Left fronto-temporal hypoperfusion is consistent with temporo-mesial sclerosis. Right frontal hyperperfusion is related to the cortical dysplasia area with HSR. HSR may resemble both electroencephalographic and perfusional ictal pattern. DSC MRI is useful in the evaluation of regions involved in the genesis of ictal and interictal epileptiform activity. Furthermore, we hypothesize that our patient would be affected by a new possible genetic syndrome.

Adult↗
PubMed2005

Asymmetric crying facies: a possible marker for congenital malformations.

Asymmetric crying facies (ACF) is caused by agenesis or hypoplasia of the depressor anguli oris muscle on one side of the mouth. Though it is an isolated finding in most cases, ACF can be associated with other congenital malformations especially of the cardiovascular system. We report a case of ACF that was subsequently diagnosed as Cayler syndrome based on associated tetralogy of Fallot (TOF) and deletion of chromosome 22q11.

Cardiomegaly↗
PubMed1980

Femoral hypoplasia--unusual facies syndrome and chromosome X trisomy.

A black American infant presented with typical findings of femoral hypoplasia--unusual facies syndrome, chromosome X trisomy in cultured lymphocytes, and a family history of mirognathia among first- and second-degree maternal relatives. It is postulated that micrognathia may lie at one end of the multigenic phenotypic spectrum which at its opposite end includes the above syndrome. The presence of X trisomy in this infant suggests that concordance between this chromosomal anomaly and variable points of the syndrome's phenotypic spectrum should be sought in other families.

Female↗
PubMed1981

The femoral hypoplasia-unusual facies syndrome: a genetic entity?

Nine patients with bilateral femoral hypoplasia have been investigated in an attempt to elucidate the syndromic identity and pathogenesis of the femoral hypoplasia-unusual facies syndrome (FH-UFS). We believe that the FH-UFS represents the end of the spectrum of a malformation complex and that it does not exist as a specific syndromic entity. Available evidence indicates that the pathogenesis is multifactorial rather than the result of any simple genetic mechanism.

Abnormalities, Multiple↗
PubMed1982

Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies.

The authors report four unrelated girls presenting mild mental deficiency and a distinct malformation syndrome, mainly consisting of short stature, macrocranium, peculiar facies with prominent forehead, hypertelorism and exophthalmos, cardiac anomalies and cutis laxa with characteristic wrinkled palms and soles, typical ribs, small vertebral bodies and slender long bones. All were sporadic cases of non-consanguineous parents of advanced age at their births, suggesting a de novo autosomal dominant mutation.

Abnormalities, Multiple↗
PubMed1984

A new psychomotor retardation syndrome with peculiar facies and marfanoid habitus.

We studied four sibs, two males and two females, who presented psychomotor retardation, typical flat facies and some features of the Marfan phenotype such as tall stature, long and slim limbs, arm span larger than height, "arachnodactyloid" hands and feet, little subcutaneous fat and muscle hypotonia. It is concluded that the aggregate of morphoneurological anomalies constitute a new syndrome probably inherited in an autosomal recessive fashion.

Adolescent↗
PubMed1984

Mentally retarded siblings with congenital heart defect, peculiar facies and cryptorchidism in the male: possible McDonough syndrome with coincidental (X; 20) translocation.

We report on a family in which two of the three children (girl and boy) have a MCA/MR syndrome consisting of peculiar facies, retarded psychomotor development, mental retardation, congenital heart defect, kyphoscoliosis, diastasis recti, and cryptorchidism in the boy. This syndrome is quite similar to that of the only family previously described and which was denominated McDonough Syndrome. The syndrome is delineated and autosomal recessive inheritance is suggested as the most likely etiology. A balanced translocation (X; 20) in the affected boy and in the unaffected mother was a coincidental finding.

Abnormalities, Multiple↗