1/32. Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients.The combination of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate, and oligodontia was recently named blepharo-cheilo-dontic (BCD) syndrome. Different combinations of these signs have been found sporadically, with autosomal dominant inheritance. ectropion of the lower eyelids, lagophthalmia, and bilateral cleft lip/palate appear to be the more common manifestations. We report on two unrelated patients with bilateral cleft lip/palate and lagophthalmia. One of these two patients had familial cleft lip/palate in two generations, probably as a variable expression of an autosomal dominant gene.- - - - - - - - - - ranking = 1keywords = lower (Clic here for more details about this article) |
2/32. osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation.We describe a newborn girl with a lethal sclerosing bone dysplasia leading to prenatal skeletal alterations and microcephaly, proptosis, hypoplastic nose and midface, small jaw, cleft palate, hypertrophied gums, intracranial calcifications, and generalized osteosclerosis. There is a remarkable similarity between our patient and six previously reported infants subsequently categorized as having a distinct entity: Raine syndrome. Autosomal recessive inheritance is postulated based on parental consanguinity in several of the previous cases and in our patient.- - - - - - - - - - ranking = 1.0226644548116keywords = jaw (Clic here for more details about this article) |
3/32. Lower lip pits and anorectal anomalies in Kabuki syndrome.We report on a Brazilian girl with Kabuki syndrome (KS) and lower lip pits and anorectal anomalies. To our knowledge, four patients with KS were described as having anorectal anomalies [Matsumura et al., 1992: J Ped Surg 27:1600-1602]. Lower lip pits were observed only in a KS patient described by Franceschini et al. [1993: Am J Med Genet 47:423-425].- - - - - - - - - - ranking = 0.5keywords = lower (Clic here for more details about this article) |
4/32. The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant.We report on a French boy with cleft mandible, pre/postaxial hand anomalies, and clubfoot born to consanguineous parents. These findings are comparable to those of previous cases of the autosomal recessive Richieri-Costa and Pereira syndrome of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. This is the first case in a non-Brazilian infant.- - - - - - - - - - ranking = 23.737737566258keywords = mandible (Clic here for more details about this article) |
5/32. Partial anodontia in a case of Waardenburg's syndrome.On routine examination of a case of Waardenburg's syndrome apart from the usual features of the disorder, partial anodontia involving both the lower lateral incisors was evident. The interesting association of partial anodontia and Waardenburg's syndrome is discussed along with relevant available literature.- - - - - - - - - - ranking = 0.5keywords = lower (Clic here for more details about this article) |
6/32. 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 = 0.5keywords = lower (Clic here for more details about this article) |
7/32. dystonia in a patient with deletion of 18p.18p- syndrome from chromosomal deletion of the short arm of chromosome 18 shows a wide range of clinical manifestations. Mental retardation is the most frequent neurological complication; other neurological deficits are more rarely reported. Only one 18p- patient with focal dystonia at the lower limbs has been reported, while there have been no reported cases of generalized dystonia. We report a 27-year-old male with 18p- de novo complete deletion (karyotype 46,XY,18p-) who was affected by severe generalized dystonia, hypokinesia, mental retardation and dysmorphic features. The 18p- syndrome should be added to the list of genetic causes of secondary dystonia. A karyotype analysis should be considered in secondary dystonias, particularly when there are associated dysmorphic features and mental retardation.- - - - - - - - - - ranking = 0.5keywords = lower (Clic here for more details about this article) |
8/32. The dentofacial manifestations of XXXXY syndrome: a case report.This paper presents a six-year-old patient with XXXXY syndrome, whose oral findings included a cleft soft palate, hyper- or meso-taurodontism in eight primary molars and in the mandibular permanent first molars, five congenitally missing premolars, and delayed development of the permanent tooth germs. The maxillary and mandibular primary central incisors were in a cross-bite relationship. Cephalometric findings showed a short ramus of the mandible and a short maxilla in the anterioposterior plane. The anteroposterior jaw relationship was in harmony. The cross-bite was considered to be due to the retroinclination of the maxillary primary incisors. This case emphasises the importance of regular dental care, and monitoring of facial growth and dental development in children with XXXXY syndrome.- - - - - - - - - - ranking = 12.89153323794keywords = mandible, jaw (Clic here for more details about this article) |
9/32. A longitudinal evaluation of craniofacial growth in a patient with Kabuki make-up syndrome: a case report.The purpose of this investigation was to evaluate the craniofacial growth of a patient diagnosed with Kabuki make-up syndrome (KMS). Craniofacial growth was assessed by analysing lateral cephalometric radiographs with an interval of 12-15 months. They were taken from 6 years 9 months to 14 years 2 months. Angular and linear measurement analyses of the craniofacial complex showed a hypoplastic maxilla and a constricted maxillary basal arch width. The mandibular size was relatively large and had started to increase from 13 years 4 months. This resulted in a prognathic face caused by forward growth of the mandible and insufficient growth of the maxilla. The skeletal pattern was Class III. open bite morphology with a steep mandibular plane (SN-MP), a relatively short ramus, and a large gonial angle were also observed. In this subject, the facial dysmorphism found in the maxilla and mandible may have been influenced by several factors. connective tissue disorder, macroglossia, lower tongue posture, and tongue thrust swallowing have been identified as possible aetiological factors that may determine dysmorphism in the craniofacial complex in this KMS patient.- - - - - - - - - - ranking = 24.237737566258keywords = mandible, lower (Clic here for more details about this article) |
10/32. Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.A unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was initially reported by Bellus et al. [1996: Nat Genet 14:174-176] and the phenotype subsequently by Muenke et al. [1997: Am J Hum Genet 60:555-564], Reardon et al. [1997: J Med Genet 34:632-636], and Graham et al. [1998: Am J Med Genet 77:322-329]. These authors emphasized the pleiotropic nature of this form of coronal craniosynostosis, including brachydactyly with carpal and/or tarsal coalitions, with other anomalies at lower frequency. We report on a family with autosomal dominant coronal synostosis, segmentation and fusion anomalies of the vertebra and ribs, and Sprengel shoulder due to the Pro250Arg mutation. We also report a single case with an identical phenotype without the mutation.- - - - - - - - - - ranking = 0.5keywords = lower (Clic here for more details about this article) |
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