Thoracolumbar syrinx in association with Williams syndrome.
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Williams syndrome is a genetic condition caused by a deletion on chromosome 7. Clinically it consists of multiple cardiovascular and craniofacial structural abnormalities as well as developmental delay, specific cognitive difficulties, and a characteristic personality. Although scoliosis is a noted manifestation of the disorder, syrinx in association with Williams syndrome has not been reported previously in the literature. Here we present the case of a child with Williams syndrome, scoliosis, and a thoracolumbar syrinx that was successfully treated surgically. We recommend that children with Williams syndrome and scoliosis undergo preoperative evaluation of the spinal cord, as well as the spinal column, so that correctable lesions such as a syrinx are not overlooked. Although syrinxes are often associated with scoliosis, the association in this case of syrinx and Williams syndrome could imply the existence of a genetic contribution to syrinx formation on chromosome 7. (+info)
Rubinstein Taybi syndrome.
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Rubinstein Taybi syndrome or Broad Thumb and Hallux syndrome is a genetic multisystem disorder characterized by facial dysmorphism, growth retardation and mental deficiency. A ten-year-old boy who had come to the Department of Pedodontics, Ragas Dental College, Chennai, with the chief complaint of unaesthetic appearance with extra teeth revealed delay in the developmental milestones. The patient appeared to be hyperactive and mentally retarded. Extra oral features revealed distinctive facial appearance with a broad fore head, hypertelorism, broad nasal bridge and beaked nose. Intra oral features observed were talons cusps in the upper central and lateral incisors, mesiodens, carious teeth and plaque accumulation. Since the patient was hyper active and mentally retarded, the dental treatment was done under GA. The treatment plan and dental management of this patient are discussed in this case report. (+info)
Sotos syndrome.
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Sotos syndrome is an autosomal dominant condition characterised by a distinctive facial appearance, learning disability and overgrowth resulting in tall stature and macrocephaly. In 2002, Sotos syndrome was shown to be caused by mutations and deletions of NSD1, which encodes a histone methyltransferase implicated in chromatin regulation. More recently, the NSD1 mutational spectrum has been defined, the phenotype of Sotos syndrome clarified and diagnostic and management guidelines developed. (+info)
Kabuki syndrome: a case report.
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This article reports the case of an 8-year-old female with Kabuki syndrome and the oral/dental implications of this syndrome, namely hypodontia with interdental spacing, abnormal tooth morphology, malocclusion and a defect in the anterior midline of the palate. The oral findings will aid the clinician in diagnosing this syndrome, which was once thought to be seen exclusively in the Japanese population. (+info)
Cues of high and low body weight negatively influence adults' perceptions and ratings in the hypothetical adoption paradigm.
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Infant and child facial cues influence perceptions and ratings in the Hypothetical Adoption Paradigm as well as actual parental care. A previous study demonstrated that infant and child facial cues of low body weight negatively influenced adults' ratings. The current study sought to replicate and expand on those results by presenting adults with normal faces as well as faces that were digitally altered to display high or low body weight. Cues of abnormal body weight significantly, and negatively, influenced adults' ratings of adoption preference, health, and cuteness. Effect sizes were larger for cues of high body weight. Thus, infant and child facial cues of abnormal body weight may represent a relative risk factor to the quality of adult care obtained by children with abnormal body weight. (+info)
Morphometric analysis of facial landmark data to characterize the facial phenotype associated with fetal alcohol syndrome.
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Procrustes analysis and principal component analysis were applied to stereo-photogrammetrically obtained landmarks to compare the facial features associated with fetal alcohol syndrome (FAS) in subjects with FAS and normal controls. Two studies were performed; both compared facial landmark data of FAS and normal subjects, but they differed in the number of landmarks chosen. The first study compared landmarks representing palpebral fissure length, upper lip thinness and philtrum smoothness and revealed no significant difference in shape. The second study added to the landmarks used in the first those affected by mid-face hypoplasia, and revealed significant differences in shape between the two groups, broadly confirming the FAS gestalt reported in the literature. Some disagreement in the characteristic FAS facial shape between our results and those reported in the literature may be due to ethnic variation. (+info)
Circumferential skin folds in a child: a case of Michelin tire baby syndrome.
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A six-month-old girl who presented with dermatitis was found to have multiple, symmetric, deep, gyrate skin folds involving her trunk and similar circumferential lesions on her extremities since birth. She had a characteristic round face with hypertelorism, depressed nasal bridge, thin, down-turned vermillion border of upper lip and short neck. Skin biopsy demonstrated increased smooth muscle fibers in the deeper dermis. A diagnosis of Michelin tire baby syndrome was made. Clinical features, histopathology, differential diagnosis and prognosis of this rare disorder have been discussed. (+info)
Three-dimensional face shape in Fabry disease.
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Facial dysmorphology is an important feature in several lysosomal storage disorders. Although in Fabry disease facial dysmorphism is not a prominent sign, minor facial abnormalities have been previously reported. By analysing three-dimensional images of faces, we quantified facial dysmorphology in a cohort of both male and female Fabry patients. Morphometric analysis of different regions of the face revealed significant differences in face shape in male patients and to a lesser extent in female patients. In male patients, the most prominent abnormalities were located in the peri-orbital region. Pattern recognition techniques achieved a discrimination accuracy of up to 85% for male patients compared with healthy controls. The discrimination accuracy in female patients achieved only 67%. This objective method for facial dysmorphology assessment provided evidence for significant differences in face shape in both male and female Fabry patients compared with controls. However, because discrimination from healthy controls is too low, no key role in the diagnostic process can be expected. (+info)