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At least 379 records · Page 21Linked to original sources
PubMed1998

Kabuki make-up syndrome and report of a case with hydrocephalus.

We report a 22-year-old man with hydrocephalus caused by aqueductal stenosis. The patient was diagnosed with Kabuki make-up syndrome based on associated findings such as a peculiar facies, postnatal growth deficiency, brachydactyly of the fifth fingers, undescended testes, and malrotation of the colon. Kabuki make-up syndrome, recognized in Japan in 1981, is characterized by five cardinal manifestations: a peculiar facies, skeletal anomalies, dermatoglyphic anomalies, slight to moderate mental retardation, and postnatal dwarfism. Neurological anomalies have been reported to include neonatal hypotonia, feeding problems, seizures, West syndrome, microcephaly, brain atrophy, GH deficiency, precocious puberty, delayed sexual development, and diabetes insipidus. Aqueductal stenosis may be caused by part of the series of midline anomalies. Physicians should pay attention to associated anomalous characteristics suggesting a malformation syndrome when they encounter nontumoral aqueductal stenosis in adolescents or adults.

Abnormalities, Multiple↗
PubMed2001

Cleft palate in a patient with Williams' syndrome.

Cleft lip or palate has not been reported in the medical literature as a part of Williams' syndrome. We present a patient who had cleft palate among other congenital manifestations. This patient's immediate postnatal period clinically seemed to have a Pierre Robin sequence. With the development of the craniofacial complex, microgenia and micrognathia with glossoptosis gradually became apparent. On further assessment, the patient showed other clinical findings that suggested a syndromic association. This required a complete evaluation to discard other conditions that present with low psychomotor development and distinctive facies, such as Kabuki syndrome or fetal alcohol syndrome. The diagnosis for Williams' syndrome was established based on the clinical features and supported by the fluorescent in situ hybridization test. Williams' syndrome has been described as a rare, congenital disorder characterized by physical and developmental problems. Common features include characteristic "elfin-like" facies, supravalvular aortic stenosis, hypercalcemia, low birth weight, slow weight gain, feeding problems, impulsive and outgoing personality, limited spatial skills and motor control, and intellectual disability. Although individuals with Williams' syndrome may show competence in areas such as language, music, and interpersonal relations, their IQs are usually low and they are considered moderately to mildly retarded.

Child, Preschool↗
PubMed2002

Ectodermal dysplasia: otolaryngologic manifestations and management.

OBJECTIVE: To present the otolaryngologic manifestations and management of 12 patients with the rare presentation of ectodermal dysplasia. STUDY DESIGN: A retrospective chart review combined with a patient evaluation by the specialties of genetics, dermatology, dentistry, and otolaryngology. METHODS: A review of the head and neck manifestations of the spectrum ectodermal dysplasia was undertaken by a retrospective chart review performed at a tertiary care children's hospital combined with a multidisciplinary evaluation by specialties of genetics, dermatology, dentistry, and otolaryngology. RESULTS: All 12 patients had confirmed ectodermal dysplasia by genetic evaluation with strong familial manifestations of the spectrum. Seven of 12 patients presented with X-linked hypohidrotic ectodermal dysplasia. Three of these seven were femalepatients and presented with variable expression. Common otolaryngologic manifestations included eczematoid skin changes, unusual facies, hypodontia, sparse scalp hair, chronic infections (rhinitis, pharyngitis, otitis media), epistaxis, ocular drying with corneal injury, dysphagia, hearing loss, and dysphonia. Immune evaluation was normal. Nasal cilia were deficient. CONCLUSIONS: Ectodermal dysplasia is a rare syndrome with heterogeneous manifestations secondary to hypoplasia of the mucous glands of the upper aerodigestive tract and ectodermal abnormalities. The spectrum is marked byhypohidrosis, recurrent ocular infections, chronic rhinitis, hypodontia, dystrophic nails, alopecia, and atypical facies. The recognition of this syndrome allows early management of ocular, dental, infectious, and dermatologic concerns with a multidisciplinary approach to management. Direct otolaryngologic management includes ocular and oral lubrication, treatment of infectious complications, and intervention to prevent and address hearing loss.

Adult↗
PubMed1998

Costello syndrome.

Costello syndrome is characterised by postnatal growth deficiency, coarse facies, redundant skin on the neck, palms, soles, and fingers, dark skin, acanthosis nigricans, and papillomata. The natural history evolves in two phases, a severe failure to thrive during the first months contrasting with a normal weight gain in later life. Cardiomyopathy is frequent but other visceral involvement is rare. Mild to moderate mental retardation is usual and most patients exhibit a characteristic sociable and friendly personality. The pathogenesis and molecular basis of the syndrome are unknown and the diagnosis is reliant on clinical expertise. Papillomata represent the most characteristic manifestation but may arise late in life. The peculiar course of the disease, the typical facies, and the ectodermal involvement with loose and hyperpigmented skin are characteristic enough to allow an early diagnosis. Most cases have been sporadic, suggesting de novo dominant mutations.

Abnormalities, Multiple↗
PubMed2004

Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis.

Schinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. Craniofacial abnormalities of this syndrome sometimes resemble a storage or metabolic disease. The pathogenesis of the disease remains unknown. The objective of this report was to emphasize the importance of congenital bilateral hydronephrosis for the diagnosis of Schinzel-Giedion syndrome. We describe the first Brazilian case of a newborn with typical facies, generalized hypertrichosis, cardiac and skeletal anomalies, and bilateral hydronephrosis detected during pregnancy and confirmed later by abdominal ultrasonography. Chromosomal constitution was normal. Of the 35 cases already reported in the literature, 31 presented hydronephrosis, which is considered an important clue in diagnosis. If Schinzel-Giedion syndrome were indexed as a cause of congenital hydronephrosis, its identification would be greatly facilitated, since the majority of the other findings in Schinzel-Giedion syndrome are nonspecific and common to many genetic syndromes.

Abnormalities, Multiple↗
PubMed1996

Alagille syndrome in a family with duplication 20p11.

Alagille syndrome (arteriohepatic dysplasia, AHD) is a well defined genetic disorder with five major features: distinctive facies, cardiovascular anomalies, paucity of interlobular bile ducts (PILBD), ocular anomalies and minor skeletal malformations. Repeatedly, structural anomalies of 20p, in most cases a deletion, have been described in patients with Alagille syndrome. We report a three generation family with AHD presenting with typical facial dysmorphology, cardiac and ocular lesions but without clinical signs of liver manifestation. Two infants died from a complex cardiovascular malformation consisting of pulmonary valve atresia, hypoplasia of the pulmonary arteries and VSD. The diagnosis was not appreciated until ocular anomalies were found in the father and the distinctive facies became apparent in the daughter. Chromosome region 20p could not be interpreted precisely by high resolution banding. Using in situ hybridization a duplication 20p11.21-p11.23 was found segregating with the disorder in the family.

Alagille Syndrome↗
PubMedDate not supplied

[Oromaxillofacial changes in thalassemia major].

Sixty patients (31 male and 29 female) with thalassemia major, aged between 6 and 26 years, 18 of which were splenectomized, were observed in this study evaluating the oro-maxillo-facial alterations and correlating them to transfusion indexes, serum ferritin levels, splenectomy and age. For each patient a haematologic and odontostomatologic card was filed with a view to report the medical and clinical history regarding: the haematologic picture, the prevention of caries and parodontal disease, the facies characteristics, the odonto-stomatologic examination, the orthodontic diagnosis, the skull X-rays and the orthopantomography. Poor oral hygiene as well as misknowledge of prevention were generally observed. All the patients showed carious lesions but most of them had never seen a dentist for therapy. The disharmonious growth of splanchnocranium, with the enlargement of the jaw and of its alveolar process, induced by the bone marrow hyperplasia, produced various and serious malocclusion stages (Angle's II class, deep bite, open bite), gnathologic alterations, hypodiaphanous paranasal sinuses and orbital hypertelorism, with a typical oriental-like facies. Malocclusion and the poor oral hygienic conditions determined the occurrence of marginal gingivitis, mainly localized at the level of the lower frontal teeth. In only 3 patients the oral mucous membrane was pale and atrophic. During this investigation agenesia and dental retention were reported in 30% and in 26% of the examined cases respectively, while no patients had supernumerary teeth. Tooth volume, position and shape abnormalities rarely occurred. Only in two patients was enamel hypoplasia described. The caries frequency greatly varied in number and in degree. Only five patients did not show any carious lesions. The caries index (DMF) for the permanent teeth calculated in all the 60 subjects was 5, 12 +/- 4.76. By utilizing Spearman's rank test the number of teeth with caries in the permanent dentition (DFM) and in the mixed dentition (DFM + dmf) was correlated to the average value of ferritin, with the ferritin peak, with transfusion requirements and with the age of the patient at the date of the clinical examination. A significant inverse correlation was therefore demonstrated between transfusion requirements and caries in the mixed dentition. The chi 2 test was used to assess the different frequency of the caries index (above 5) between splenectomized and non-splenectomized patients. Splenectomy proved to be associated only apparently to the total number of patients with more than 5 caries. Conversely, in the non-splenectomized group the frequency of patients with more than 5 caries was definitely lower. Indeed the overall number of caries in both groups of splenectomized and non-splenectomized subjects, of the same average age, was almost identical. Consequently, splenectomy and the higher number of caries are statistically more probable in individuals affected by thalassemia, of increasing age, without however being mutually correlated.

Adolescent↗
PubMed1976

Severe renal dysgenesis produced by a dominant gene.

A woman with the autosomal dominant syndrome of preauricular pits, cervical fistulae, and partial deafness gave birth to two children with preauricular pits and severe renal dysgenesis. The facies had some features of the Potter facies of renal agenesis. One child died soon after birth because of pneumothorax and immature development of the lungs. We suggest that all infants with renal agenesis or dysgenesis be examined for preauricular pits because of the high recurrence risk of renal anomalies in families with this syndrome.

Abnormalities, Multiple↗
PubMed1979

The G syndrome: a case report.

A case of the G syndrome is reported in a baby boy who had an unusual facies (prominent forehead, telecanthus, posteriorly rotated ears, and anteverted nostrils), laryngeal cleft, hypospadias, cryptorchidism, and psychomotor development delay, possibly secondary to birth asphyxia and numerous medical and surgical complications. The mother had a similar facies.

Craniofacial Dysostosis↗
PubMed1979

Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: "The Ochoa syndrome".

Seven patients (4 females, and 3 males) born in unrelated families, one of them consanguineous (first cousins), were affected by peculiar facies and gestures while smiling and crying, and by hydronephrosis, hydroureter and intravesical stenosis of the ureter, abnormal caliber of the urether in the prostatic and membranous portions, urethral valves, abnormal bladder with trabeculation, and diverticula associated with severe hypertrophy of the mucosa with sclerotic changes. The genetic analysis of these families indicates that the condition is probably autosomal dominant, with variable expressivity and incomplete penetrance. The syndrome represents alteration of facial and urinary developmental fields. The peculiar facies allows early recognition of the condition, and this can be helpful for early assessment and treatment, leading perhaps to a better prognosis.

Adolescent↗
PubMed1995

Small patella syndrome.

We report on 2 sporadic cases of small patella syndrome (coxo-podo-patellaire syndrome) most probably representing new mutations. Both children showed retarded patellar bone age (small patellae in Patient 1 and absent patellae in Patient 2) and pelvic abnormalities. Patient 1 who was fully investigated had an unusual facies with characteristic morphological abnormalities of the forefoot and generalized bone changes. Patient 2 was not available for examination and only X-ray films of his knees, pelvis, and chest were available. These were all abnormal. He was said to have an "unusual facies" with flattened nose and prominent forehead but no further information was available. We think that small patella syndrome (coxo-podo-patellaire syndrome) is a generalized bone dysplasia with morphological and diagnostic radiographic appearances.

Adolescent↗
PubMed1988

Morphologic characteristics of developing osteoarthrotic lesions in the knee cartilage of STR/IN mice.

The development of osteoarthrotic cartilage lesions in the knee joints of male STR/IN mice was studied with respect to their histologic appearance and their various localizations in the joint. Spontaneous articular cartilage degeneration on the medial portion of the tibial plateau was considered to be the initial event. Continued loss of cartilage subsequently led to a pronounced instability of the knee joint, with a varus deformity. This was followed by medial patellar luxation with corresponding osteoarthrotic lesions at the facies patellaris femoris. The most marked osteoarthrotic cartilage degeneration developed on the medial tibial condyle and at the facies patellaris femoris of the femoropatellar joint. Histologic examination of the osteoarthrotic defects in these two regions revealed distinct morphologic differences with respect to formation of chondrocyte clusters, tendency to regeneration, and proliferation reactions. Lectin binding experiments in normal articular cartilage revealed regional differences regarding the presence or absence of keratan sulfate in the extracellular matrix. The lack of keratan sulfate in tibial cartilage might reflect its tendency to degenerate spontaneously. It is therefore suggested that male STR/IN mice are particularly useful for studying two different types of osteoarthrosis, one due to a biomechanically induced instability (patellar luxation) and one due to biochemical changes (absence of keratan sulfate) of still unknown pathogenesis.

Animals↗
PubMedDate not supplied

Geology and preliminary dating of the hominid-bearing sedimentary fill of the Sima de los Huesos Chamber, Cueva Mayor of the Sierra de Atapuerca, Burgos, Spain.

Sediments of the Sima de los Huesos vary greatly over distances of a few meters. This is typical of interior cave facies, and caused by cycles of cut and fill. Mud breccias containing human bones, grading upwards to mud containing bear bones, fill an irregular surface cut into basal marks and sands. The lack of Bedding and the chaotic abundance of fragile speleothem clasts in the fossiliferous muds suggests that the deposit was originally a subterranean pond facies, and that after emplacement of the human remains, underwent vigorous post-depositional rotation and collapse and brecciation, caused by underlying bedrock dissolution and undermining. The fossiliferous deposits are capped by flowstone and guano-bearing muds which lack large-mammal fossils. U-series and radiocarbon dating indicates the capping flowstones formed from about 68 ka to about 25 ka. U-series analyses of speleothem clasts among the human fossils indicate that all are at, or close to, isotopic equilibrium (> 350 ka). The distribution of U-series dates for 25 bear bones (154 +/- 66 ka) and for 16 human bones (148 +/- 34 ka) is similar and rather broad. Because the human bones seem to be stratigraphically older than chose of the bears, the results would indicate that most of the bones have been accumulating uranium irregularly with time. Electron spin resonance (ESR) analyses of six selected bear bones indicates dates of 189 +/- 28 ka, for which each is cordant with their corresponding U-series date (181 +/- 41 ka). Combined ESR and U-series dates for these samples yielded 200 +/- 4 ka. Such agreement is highly suggestive that uranium uptake in these bones was close to the early-uptake (EU) model, and the dates are essentially correct. Another three selected samples yielded combined ESR U-series dates of 320 +/- 4 ka with a modeled intermediate-mode of uranium uptake. The dating results, therefore, seem to provide a firm minimum age of about 200 ka for the human entry: and suggestive evidence of entry before 320 ka.

Animals↗
PubMed1984

Infantile type 2 sialidosis in a Pakistani family--a clinical and biochemical study.

Two siblings of consanguineous parents presented in infancy with failure to thrive, mild coarsening of facies, visceromegaly and corneal opacities. One showed reduced hepatic beta-galactosidase activity suggesting a GM1-gangliosidosis variant. Both patients developed progressive coarsening of facies, slow neurological deterioration, macular cherry-red spots and punctate cataracts over the first decade. Urine screening with thin layer chromatography revealed abnormal excretion of two slow-moving oligosaccharide bands and leukocyte and fibroblast neuraminidase activity was grossly reduced. The mother, phenotypically normal, showed levels of neuraminidase compatible with heterozygosity. These patients have primary neuraminidase deficiency. The clinical and biochemical variables are reviewed.

Adolescent↗
PubMed1986

Pigment distribution in Waardenburg's syndrome: a new hypothesis.

Two cases of Waardenburg's syndrome are presented. The first case is an example of Waardenburg's type II (without dystopia canthorum) with bilateral sectoral iris heterochromia and fundus bicolor, hyperpigmented skin patches, characteristic facies and deafness. The second case is an example of Waardenburg's type I (with dystopia canthorum) with complete iris heterochromia and characteristic facies. Bilateral glaucoma was also present in the second case. Previously unrecognized details of iris architecture in Waardenburg's syndrome are described. Pigmentation anomalies of the skin are also discussed. It is hypothesized that the ocular pigmentary disturbance in Waardenburg's syndrome is widespread and involves the hyperchromic as well as the hypochromic areas of the eyes. A possible association with glaucoma might be explained by such a hypothesis.

Abnormalities, Multiple↗
PubMed1988

Lectin-binding in normal and osteoarthrotic articular cartilage from STR/1N-mouse knee joints.

Fluorescein-isothiocyanate (FITC) labeled lectins were used to study the distribution pattern of specific binding-sites in histological sections of normal and osteoarthrotic articular cartilage from the mouse knee joint. Male inbred mice of the STR/1N-strain develop spontaneous arthrotic articular cartilage lesions on the medial condyle of tibia and femur. The varus-deformity of the knee joint leads to a recurrent medial patellar luxation with osteoarthrotic defects on the medial part of the facies patellaris femoris. It was demonstrated that the lectin staining pattern of osteoarthrotic articular cartilage, especially on the facies patellaris femoris, was different from that of normal articular cartilage. The differences in lectin staining corresponded to those observed between normal and fibrillated articular cartilage from human patellae. The normal articular cartilage of the mouse knee joint possessed lectin binding-sites for Concanavalin A (ConA) and wheat germ agglutinin (WGA), but not for Ulex europaeus agglutinin (UEA), soy bean agglutinin (SBA) and peanut agglutinin (PNA). In addition to the completely changed distribution pattern of ConA and WGA in osteoarthrotic cartilage, SBA, PNA and UEA developed distinct staining patterns particular to the fibrillated areas of arthrotic cartilage. The increased lectin-binding to arthrotic articular cartilage may be due to unmasking of sugars in the course of bondage breakdown in fibrillated cartilage or the production of pathological glycoproteins. It is evident that lectins can demonstrate minute differences between normal and arthrotic cartilage and it is concluded, therefore, that lectins are sensitive and specific tools for the study of degenerative joint diseases.

Animals↗
PubMed2004

Petrology, geochemistry and geodynamics of basic granulite from the Altay area, North Xinjiang, China.

The basic granulite of the Altay orogenic belt occurs as tectonic lens in the Devonian medium- to lower-grade metamorphic beds through fault contact. The Altay granulite (AG) is an amphibole plagioclase two-pyroxene granulite and is mainly composed of two pyroxenes, plagioclase, amphibole and biotite. Its melano-minerals are rich in Mg/(Mg+Fe2+), and its amphibole and biotite are rich in TiO2. The AG is rich in Mg/(Mg+Fe2+), Al2O3 and depletion of U, Th and Rb contents. The AG has moderate SigmaREE and LREE-enriched with weak positive Eu anomaly. The AG shows island-arc pattern with negative Nb, P and Ti anomalies, reflecting that formation of the AG may be associated with subduction. Geochemical and mineral composition data reflect that the protolith of the AG is calc-alkaline basalt and formed by granulite facies metamorphism having peak P-T conditions of 750 degrees C-780 degrees C and 0.6-0.7 Gpa. The AG formation underwent two stages was suggested. In the early stage of oceanic crustal subduction, calc-alkaline basalt with island-arc environment underwent granulite facies metamorphism to form the AG in deep crust, and in the late stage, the AG was thrust into the upper crust.

Aluminum Silicates↗
PubMed2000

[What retropatellar changes result by implantation of a superficial knee joint prosthesis?].

The aim of this study was to evaluate the retropatellar pressure, force, and contact area in cases of knee arthroplasty compared to knees without arthroplasty. We examined six leg specimens before and after knee arthroplasty. The modified Thiel fixation was used, and arthroplasty was the Genesis I without patellar implant (Fa. Smith & Nephew, Schenefeld). Contact measurements were performed with pressure-sensitive film (Fuji Prescale type "super low") in 45 degrees, 60 degrees, 90 degrees, and 120 degrees knee flexion. The results were evaluated with special software, "Pressure Imaging and Analyzing System FPD-901 Series". The leg was exarticulated in the hip joint and the knee joint was opened from a suprapatellar approach. The film was placed at a defined area between the facies patellaris of the femur and facies articularis of the patella. Instantaneous pressure was measured during a time of 5-s pressure increase and a further 5 s. A force of 280 N was applied to the quadriceps muscle. Before knee arthroplasty, the contact area measured 154.3 mm2, the average pressure was 1.14 MPa, the force 182.13 N. After knee arthroplasty, the contact area was 119.94 mm2, the average pressure 1.522 MPa, the force 180.98 N. Following knee arthroplasty the contact area decreased significantly (P = 0.015), and the average (P = 0.0001) and maximum pressure (P = 0.0003) increased significantly. The force did not change significantly (P = 0.7642). The choice of the knee arthroplasty implant and approach to the knee joint should be considered in order to achieve an increased retropatellar contact area thus preventing smaller contact areas than before knee arthroplasty. The increased contact area could also prevent increasing retropatellar pressures after knee arthroplasty and further complications.

Aged↗