1/1100. Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism. A female fetus with brain malformations, multicystic kidneys, absence of the right thumb, and a posterior cleft of palate was delivered at 32 weeks of gestation. Cytogenetic studies including FISH showed a novel intrachromosomal triplication of the proximal long arm of chromosome 2 (q11.2-q21), resulting in tetrasomy for this segment. The middle repeat was inverted. At least 11 patients with intrachromosomal triplications have been reported, mostly involving chromosome 15q. The mechanism involved in formation of these rearrangements is compatible with U-type exchange events among three chromatids. ( info) |
2/1100. child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype. We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech, learning difficulties, and right fifth finger anomaly manifestations, consistent with velocardiofacial syndrome (VCFS); however, cytogenetic analysis demonstrated a small terminal deletion of the segment 4q34.2 to 4qter. Fluorescent in situ hybridization did not identify a deletion of the critical region associated with VCFS. In previously reported 4q deletions with a breakpoint distal to 4q34.2, no cardiac defects or cleft of palate were reported. Our patient has a deletion of 4q34.2 to 4qter and has palate and cardiac involvement and minor learning difficulties, which implies that genes involved in heart and palate development lie distal to 4q34.2, and that the critical region for more severe mental retardation on 4q may reside proximal to 4q34.2. These results suggest that a distal 4q deletion can lead to a phenotype similar to VCFS and emphasizes the importance of searching for other karyotype abnormalities when a VCFS-like phenotype is present and a 22q deletion is not identified. ( info) |
3/1100. Camouflage in head and neck region--a non-invasive option for skin lesions. The technique of camouflage, a non-invasive procedure to correct flaws in the texture and colour of the facial skin, is presented. The acceptance and use of camouflaging by 52 patients with different diagnoses are presented. The advantages of camouflaging are discussed in comparison to medical tattooing. ( info) |
| OBJECTIVE: To describe subtle nasal deformities and microform cleft lips in parents whose children have complete cleft lip deformities. DESIGN: Clinical analyses of three parents whose children had complete cleft lips. Subtle nasal deformities and microform cleft lips were identified. SETTING: An institutional general hospital: Manuel Gea Gonzalez cleft lip and Palate Clinic in mexico City, mexico. patients: The study first examined the parents of all complete and incomplete cleft lip-palate patients who were seen from March 1994 to February 1997 by the authors (n = 1000). We identified three patients, each of whom had one parent who showed signs of subtle nasal deformity and microform cleft lip. INTERVENTIONS: None for the parents. Interventions in the children with cleft lips and palates were known. MAIN OUTCOME MEASURES: Qualitative photographic analyses were performed. Nostril symmetry, septal deviation, nasal floor position, and orbicularis oris malinsertions were carefully examined. RESULTS: Three of the evaluated parents had one alar cartilage caudally displaced and a deviated septum. One parent's nasal floor was depressed. Two parents also had evidence of a minimal orbicularis oris muscle fissure located in the upper lip. CONCLUSION: Genetic evaluations of children with complete and incomplete cleft lips might also include thorough evaluation of their parents. Although small in size, this study of three case histories identified nasal and lip deformities in the patients' parents. ( info) |
5/1100. A serious anaesthetic complication of a Lefort I osteotomy. We report a case of surgical transsection of the nasoendotracheal tube during a Lefort I maxillary osteotomy, resulting in severe intra-operative ventilatory difficulties. The management of this problem and a brief review of the literature are presented. ( info) |
6/1100. New case of the Richieri-Costa/Guion-Almeida syndrome. We describe a boy with multiple congenital anomalies/mental retardation (MCA/MR) syndrome. He has growth retardation, microbrachycephaly, coloboma of the iris, and typical facial anomalies including cleft lip/palate. This phenotype overlaps with that described by Richieri-Costa and Guion-Almeida in three Brazilian brothers. The new patient provides further evidence of the existence of this rare clinical entity. ( info) |
7/1100. Confirmation of Kapur-Toriello syndrome in an Italian patient. We report a patient showing the phenotype described by Kapur and Toriello (Am J Med Genet 41:423-425, 1991) in two sibs. Clinical manifestations include severe mental retardation, cleft lip/palate, and distinctive nose, eye, and intestinal defects. This additional case contributes to a better definition of the apparently new MCA/MR syndrome proposed by Kapur and Toriello. ( info) |
8/1100. Anesthetic considerations of two sisters with beckwith-wiedemann syndrome. Anesthetic considerations of 21-mo-old and 4-yr-old sisters with beckwith-wiedemann syndrome during surgical repair of cleft palate and reduction of macroglossia are presented and discussed. This syndrome is characterized by exomphalos, macroglossia, gigantism, hypoglycemia in infancy, and many other clinical features. This syndrome is also known as exomphalos, macroglossia, and gigantism (EMG) syndrome. Principal problems associated with anesthetic management in this syndrome are hypoglycemia and macroglossia. Careful intraoperative plasma glucose monitoring is particularly important to prevent the neurologic sequelae of unrecognized hypoglycemia. It is expected that airway management would be complicated by the macroglossia, which might cause difficult bag/mask ventilation and endotracheal intubation following the induction of anesthesia and muscle paralysis, so preparations for airway difficulty (e.g., awake vocal cord inspection) should be considered before induction. A nasopharyngeal airway is useful in relieving postoperative airway obstruction. ( info) |
9/1100. Severe micrognathia, cleft palate, absent olfactory tract, and abnormal rib development: cerebro-costo-mandibular syndrome or a new syndrome? We report on a family in which two sibs had apparently absent ribs and severe micrognathia on prenatal ultrasonography. The pregnancies were terminated at 19 and 12 weeks of gestation, respectively. autopsy findings in the first fetus (19 weeks of gestation) included severe micrognathia, a U-shaped defect of the soft palate, marked postnuchal edema, absent olfactory bulbs, and cribriform plate and rib abnormalities. The ribs consisted of cartilage anteriorly, with only a small amount of fibrous tissue present laterally and posteriorly. The second fetus (12 weeks gestation) had agnathia, with a large U-shaped defect in the soft palate. There was moderate postnuchal edema. The ribs were unossified and there were gaps in the cartilage where primitive mesenchyme was present posteriorly and laterally. These findings are consistent with a severe form of cerebro-costo-mandibular syndrome. The early fetal histopathology of both cases suggests a possible mechanism by which the characteristic "rib gaps" of cerebro-costo-mandibular syndrome may develop, with evidence for abnormal function of a gene or genes involved in regulation of rib chondrogenesis. ( info) |
10/1100. cleft palate, ptosis, digital anomalies and mental retardation: a new syndrome or a distal arthrogryposis variant? A case is presented of a female with cleft palate, digital anomalies and mental retardation. The case is compared with one already reported and possible diagnoses discussed. These cases appear to present a new syndrome or a variant of distal arthrogryposis. ( info) |