1/16. Maternal uniparental disomy 7--review and further delineation of the phenotype.uniparental disomy (UPD) is defined as the inheritance of both homologous chromosomes from only one parent. So far, maternal UPD 7 has been described in 28 cases. Here, we report 4 new cases, present clinical information of 5 cases previously reported by us, and review the clinical and molecular findings of all 32 cases. We found a phenotype characterized by pre- and postnatal growth retardation, occipitofrontal head circumference in the lower normal range, a triangular face, and retarded bone maturation. Findings of the facial gestalt included a high and broad forehead and a pointed chin. A broad mouth with down-turned corners, prominent ears, cafe-au-lait spots, hemihypotrophy, or clinodactyly were rarely present. Psychomotor development was delayed in 6 cases. The clinical findings strikingly resemble the phenotype of the heterogeneous silver-russell syndrome (SRS). Other anomalies were less frequently found than in SRS. Molecular investigations revealed 11 cases with isodisomy and 17 cases with heterodisomy. In 4 cases this information was not available. From the allelic distribution of the microsatellites investigated, 9 cases might be the consequence of an error at maternal meiosis I, and 6 cases might be due to non-disjunction at maternal meiosis II. Three of the 17 heterodisomic cases had trisomy 7 in chorionic villi, in the remaining cases no prenatal diagnosis through chorionic villus sampling was reported. CONCLUSION: Maternal UPD 7 should investigated in children with pre- and postnatal growth retardation anda facial gestalt characterized by a high and broad forehead and a pointed chin, as well as in cofined placental mosaicism for trisomy 7.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
2/16. MCA/MR syndrome with severe pre- and postnatal growth retardation, deep mental retardation, distinct facial appearance with nasal hypoplasia, cleft palate and retino-choroidal coloboma in two unrelated female patients.We describe the clinical findings and natural history in two unrelated deeply mentally retarded females, now 28 and 20 years old respectively. Both presented prenatal growth retardation and severe postnatal growth retardation. Their craniofacial appearance is distinct with nasal hypoplasia, triangular mouth and thin lips. Both have a cleft palate and a retinal coloboma at the right eye. Motor development is below the age of 1 year with a complex neurological syndrome with axial hypotonia and spastic quadriplegia.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
3/16. Restrictive dermopathy: report of a case and review of the literature.BACKGROUND: Restrictive dermopathy is a rare autosomal recessive skin disorder that is fatal in the neonatal period. Clinical and pathologic findings are distinctive and allow for a specific diagnosis in most cases. methods: We present a case of an affected infant and a review of the previously reported cases in the literature. RESULTS: The infant had thick shiny skin with reduced compliance and multiple spontaneous linear splits. Additional findings included an abnormal facies with a distinctive small, round and open mouth, low set ears, small nose, widely spaced sutures, flexion contractures of the extremities, and poorly expanded lungs. The infant expired 65 h after birth. Histologic findings of the skin at autopsy included a relatively unremarkable epidermis, a flat dermal-epidermal junction (absent rete ridges), an overall thinned dermis with hypoplastic appendage structures, a dense fibrotic reticular dermis with collagen parallel to the epidermis, a sharp subcutaneous margin, and an abnormally thick layer of subcutaneous adipose tissue. Electron microscopic findings included dense dermal patches of collagen and fibroblasts with abundant endoplasmic reticulum and unusually small tonofilaments. review of previously reported cases reveals strikingly consistent findings. CONCLUSIONS: This rare condition illustrates that abnormal cutaneous development may produce fetal hypokinesia, leading to profound effects on intrauterine growth and development. The autosomal recessive pattern of inheritance and morphologic changes of the skin and skeletal system in this disorder suggest that a structural protein or enzyme defect, perhaps of collagen metabolism, may underlie the pathogenesis.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
4/16. Juvenile hyaline fibromatosis.Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disease with onset in infancy or early childhood. It is characterized by papulonodular skin lesions, soft tissue masses, gingival hypertrophy, and flexion contractures of the large joints. The light and electron microscopic features are very distinctive. Here we report an 8-month-old boy with characteristic stiffness of the knees and elbows and pink confluent papules on the paranasal folds, and periauricular and perianal regions. He also had hard nodules all over the scalp and around the mouth, and severe gingival hypertrophy. Histologic and ultrastructural features were typical of JHF. Clinical features, pathology, and physiology are discussed.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
5/16. Syndromic dystelephalangy.We report an 8-year-old boy with a distinctive facial phenotype, deformities of fingers and toes and limitation of knee movement of unknown etiology. He had a round face, a long nose, a thin upper lip, a small mouth and micrognathia. In spite of microcephaly and retarded speech development secondary to hearing loss his mental development was within normal limits. The most distinctive radiographic abnormality was hypoplasia of the distal end of the middle phalanges with radial deviation of the distal phalanges.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
6/16. Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers.We describe two brothers born to consanguineous parents, who presented with hypotonia and hypoglycaemia in the neonatal period and later developed obesity and developmental delay. They had brachydactyly and similar facial features including a prominent forehead, low nasal bridge, midface hypoplasia, full lips, a small mouth, and small, low set ears with overfolded helices. Their sister had mild learning disabilities. No additional anomalies were found, and metabolic investigations including peroxisomal functions gave normal results. We suggest the patients have a hitherto unreported condition, with an autosomal or X-linked mode of inheritance.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
7/16. Dysmorphic face in two siblings with infantile neuroaxonal dystrophy.Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive, neurodegenerative disease with onset in the first or second year of life. It has been reported that INAD shows numerous phenotype characteristics including problems associated with vision, hearing and physical coordination. It has however been very rare to see facial dysmorphism in these children. The study analyzes a girl and boy of a first cousin marriage with infantile neuroaxonal dystrophy affected at birth. At infancy, the children were examined in the Cerrahpasa Medical faculty genetic research Center, Istanbul. They had typical INAD features such as the lack of head control, vision, speech, sitting, and walking which are also seen in children with other congenital abnormalities. These children showed remarkable dysmorphism in the face which included prominent forehead, strabismus, small nose, fish mouth (boy), micrognathia, and large and low-settled ears. The presence of these facial features makes the patients appear unique and diagnosis more accurate. While these features are commonly seen diagnosis may be difficult at its onset. Until now this appearence has not been reported in INAD patients. In conclusion, in the first few months of life without any clinical or neurological signs, the physician should also consider diagnosing the disease of the infant as INAD.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
8/16. Freeman-Sheldon syndrome: a case report.Freeman-Sheldon syndrome, also called "whistling-face syndrome," is a very rare genetic condition, occurring both sporadically and by transmission through autosomal dominant or recessive mode, which affects primarily the face and skeleton. Characteristics include microstomia of the mouth, which gives the person a whistling appearance, a flat face, club feet, contracted joint muscles of the fingers and hands, and underdeveloped nose cartilage. This article describes a case of Freeman-Sheldon syndrome in a 10-year-old male. The most apparent deformities are associated with orofacial and skeletal development.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
9/16. Distal monosomy 18p/distal trisomy 20p--a recognizable facial phenotype?We describe an 8.5-year-old boy with facial dysmorphism consisting of a round and flat face, telecanthus, periorbital fullness, short nose, downturned corners of the mouth, and micrognathia. In addition, profound mental retardation, tetralogy of Fallot, and renal dysplasia were present. Tentative clinical diagnoses during the 6-year follow-up included Down, Hennekam, and Noonan syndromes. Refinement of cytogenetic techniques, especially increase of banding resolution in conventional cytogenetic analysis, gave the clue to the correct diagnosis, which was proven by fluorescence in situ hybridization (FISH) with whole chromosome paints and single copy probes. We could show that he had an unbalanced translocation inherited from his father resulting in partial monosomy 18p and partial trisomy 20p. The combination of deletion 18p/duplication 20p was previously reported in three patients and seems to have a clinically recognizable face.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
10/16. The dentofacial features of Sanjad-Sakati syndrome: a case report.Sanjad-Sakati syndrome is an autosomal recessive disorder that was first reported by Sanjad et al. in 1988. It is characterized by congenital hypoparathyroidism, severe growth failure and dysmorphic features. The clinical features include deep set eyes, microcephaly, thin lips, depressed nasal bridge with beaked nose, external ear anomalies and learning difficulties. This report presents the case of a 4-year-old patient who was referred to our dental clinic because of pain in her mouth and poor dental health. Oral findings included micrognathic mandible and maxilla, microdontia, enamel hypoplasia as well as severely decayed teeth. Treatment was carried out under general anaesthesia to extract the most severely affected teeth and restore those which could be conserved. It was concluded that these patients have special dental needs; early diagnosis of the affected children is therefore important in order to commence preventive dental therapy and carry out appropriate dental treatment at the optimum time.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
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