Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings

Laryngeal structural anomalies were described in 13 cases of Richieri-Costa Pereira syndrome, and four previously reported cases were reviewed. The 17 individuals examined had the typical laryngeal anomalies and vocal disorders previously described. The new findings are the laryngeal microweb observed in three cases and arytenoid anteriorization movement observed in 14 cases.     

Laryngeal malformations in the Richieri-Costa and pereira form of acrofacial dysostosis

We report on laryngeal malformations in 5 subjects, 4 females and 1 male, with the autosomal-recessive Richieri-Costa and Pereira form of acrofacial dysostosis. Characteristics of the voice are described. © 1996 Wiley-Liss, Inc.     

Laryngeal malformation in the Richieri-Costa-Pereira acrofacial dysostosis: description of two new patients

We describe laryngeal malformations and voice disorders in two new patients with the autosomal recessive Richieri-Costa and Pereira form of acrofacial dysostosis. This report confirms the data on the first five patients we had already presented in 1996.     

Postaxial acrofacial dysostosis: Report on two patients

We report on 2 patients with the postaxial acrofacial dysostosis (AFD) syndrome. One patient was an isolated case; the other had an equally affected brother previously described [Richieri-Costa and Guion-Almeida, 1989]. Recurrence in sibs suggests autosomal recessive inheritance. © Wiley-Liss, Inc.     

Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum

Richieri‐Costa‐Pereira syndrome is a rare autosomal recessive acrofacial dysostosis that has been mainly described in Brazilian individuals. The cardinal features include Robin sequence, cleft mandible, laryngeal anomalies and limb defects. A biallelic expansion of a complex repeated motif in the 5′ untranslated region of EIF4A3 has been shown to cause this syndrome, commonly with 15 or 16 repeats. The only patient with mild clinical findings harbored a 14‐repeat expansion in 1 allele and a point mutation in the other allele. This proband is described here in more details, as well as is his affected sister, and 5 new individuals with Richieri‐Costa‐Pereira syndrome, including a patient from England, of African ancestry. This study has expanded the phenotype in this syndrome by the observation of microcephaly, better characterization of skeletal abnormalities, less severe phenotype with only mild facial dysmorphisms and limb anomalies, as well as the absence of cleft mandible, which is a hallmark of the syndrome. Although the most frequent mutation in this study was the recurrent 16‐repeat expansion in EIF4A3, there was an overrepresentation of the 14‐repeat expansion, with mild phenotypic expression, thus suggesting that the number of these motifs could play a role in phenotypic delineation.     

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.     

An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).

We report a brother and sister affected by a constellation of malformations, including cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). A similar association has been reported previously by Richieri-Costa and Orquizas in a male patient born to consanguineous parents. An autosomal recessive pattern of inheritance is proposed for this syndrome.     

Postaxial acrofacial dysostosis: report on two patients.

We report on 2 patients with the postaxial acrofacial dysostosis (AFD) syndrome. One patient was an isolated case; the other had an equally affected brother previously described [Richieri-Costa and Guion-Almeida, 1989]. Recurrence in sibs suggests autosomal recessive inheritance.     

Anomalies in an infant with Nager acrofacial dysostosis

We report on an infant with Nager acrofacial dysostosis, laryngeal and epiglottic hypoplasia, abnormal septation of the right middle lobe of the lung, hypoplastic right first rib, and dislocation of the right hip. These findings suggest the possibility that patients with the Nager syndrome may have other developmental defects in addition to the facial and acral anomalies associated with this syndrome.     

Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases

We reported on 16 new Brazilian patients and review findings in 12 previously reported cases (25 apparently unrelated Brazilian families) from Hospital of Rehabilitation of Craniofacial Anomalies, presenting with Richieri‐Costa–Pereira syndrome. All patients display a unique pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of mandible, cleft palate/Robin sequence, absence of central lower incisors, minor ears anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability was also a common finding. The sex‐ratio showed deviation toward to female (1.8F:1M). Recurrence in sibs was observed in nine instances and consanguinity in 11, supporting the hypothesis of autosomal recessive inheritance. Nineteen of the 25 families lived in São Paulo State, seven of them (10 affected individuals) from an isolated region named “Vale do Ribeira.” The geographic barrier of this region associated with the high incidence of the consanguineous matting suggested that this condition is caused by a rare mutation with a founder effect. With the exception of one patient in France, all known cases are of Brazilian origin. The causative gene of this rare syndrome remains unknown. © 2010 Wiley‐Liss, Inc.     

Two siblings with midline field defects and Hirschsprung disease: Variable expression of Toriello-Carey or new syndrome?

We describe 2 sibs with multiple congenital anomalies. The main manifestations include hypoplasia of the corpus callosum and/or cerebellar hypoplasia, Robin sequence, pharyngeal and laryngeal hypoplasia, abnormal ears, excessive neck skin, cardiac defect, and Hirschsprung disease. The presence in 2 sibs born to healthy, consanguineous parents suggests autosomal recessive inheritance. These anomalies must have arisen during blastogenesis; the syndrome resembles most the condition described in 1988 by Toriello and Carey (Am J Med Genet 31:17–23). © 1993 Wiley-Liss, Inc.     

Clefting, amniotic bands, and polydactyly: a distinct phenotype that supports an intrinsic mechanism for amniotic band sequence

Amniotic band sequence (ABS) is a well-described condition involving a variety of congenital anomalies in association with fibrous bands. However, many cases are associated with birth defects that are not readily explained by the mechanism of fibrous strings entangling body parts and causing disruption of the fetal structures. The most common of these is typical cleft lip and palate (CLP). Here we describe such a case, with typical ABS limb defects and constriction bands, along with CLP, supernumerary left nipple, polydactyly, and a skin papilla. This case is nearly identical to a child previously described by Guion-Almieda and Richieri-Costa [2000] and may, therefore, represent a previously unrecognized syndrome that overlaps with ABS. Furthermore it may be that cases with ABS-like anomalies associated with CLP represent a different condition, possibly caused by mutations in the genes Disorganization, p63, or IRF6.     

Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: a new autosomal recessive syndrome?

We describe findings in four children, three of whom are sibs, who appear to have the same, previously undescribed multiple congenital anomaly (MCA) syndrome. The main manifestations include agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, abnormal ears, redundant neck skin, laryngeal anomalies, cardiac defect, short hands, and hypotonia. The presence of this condition in sibs of each sex suggests that autosomal recessive inheritance is the most likely cause.     

Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome

We report on 2 sibs with the Fraser cryptophthalmos syndrome who had pulmonary hyperplasia and laryngeal stenosis. A third unrelated patient with Fraser syndrome had laryngeal stenosis, renal agenesis, and normal lung development, rather than the expected pulmonary hypoplasia. Three additional cases of pulmonary hyperplasia in the Fraser syndrome were ascertained from a review. In all of these cases the likely mechanism for pulmonary hyperplasia is retention of fetal lung fluid by laryngeal or tracheal obstruction. © 1994 Wiley-Liss, Inc.     

Congenital hypothalamic hamartoblastoma,hypopituitarism, imperforate anus,and postaxial polydactyly—a new syndrome? Part I: Clinical,causal, and pathogenetic considerations

We report on six infants with a neonatally lethal malformation syndrome of hypothalamic hamartoblastoma, postaxial polydactyly, and imperforate anus. Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula, hypoadrenalism, microphallus, congential heart defect, and intrauterine growth retardation. The infants also had hypopituitarism and hypoadrenalism. All were sporadic cases, parents were not consanguineous, chromosomes were apparently normal. Family histories were unremarkable. There was insecticide and/or herbicide exposure in several of the cases, but no exposures were common to all 6 mothers. Five of the patients were born within an 8-month period, but all in different geographic locations. It is postulated that this is a previously apparently unreported syndrome of presently unknown cause.     

Cytomegaloviral laryngitis and probable malignant lymphoma of the larynx in a patient with acquired immunodeficiency syndrome.

We describe a case of cytomegaloviral laryngitis and probable primary laryngeal malignant non-Hodgkin's lymphoma in a man with acquired immunodeficiency syndrome who presented to an otolaryngology clinic with odynophagia and hoarseness. While both of these disease processes have a known association with human immunodeficiency virus infection, laryngeal presentation is extremely rare. We stress the need for thorough clinical and pathologic otolaryngologic evaluation of patients with human immunodeficiency virus infection who have upper aerodigestive complaints.     

Laryngeal somatosensory deficits in Parkinson’s disease: implications for speech respiratory and phonatory control

Parkinson’s disease (PD) is often associated with substantial impairment of speech respiratory and phonatory control. However, the degree to which these impairments are related to abnormal laryngeal sensory function is unknown. This study examined whether individuals with PD exhibited abnormal and more asymmetric laryngeal somatosensory function compared with healthy controls, and whether these deficits were associated with disease and voice severity. Nineteen PD participants were tested and compared with 18 healthy controls. Testing included endoscopic assessment of laryngeal somatosensory function, with aerodynamic and acoustic assessment of respiratory and phonatory control, and clinical ratings of voice and disease severity. PD participants exhibited significantly abnormal and asymmetric laryngeal somatosensory function compared with healthy controls. Sensory deficits were significantly associated with timing of phonatory onset, voice intensity, respiratory driving pressure, laryngeal resistance, lung volume expended per syllable, disease severity, and voice severity. These results suggest that respiratory and phonatory control are influenced by laryngeal somatosensory function, that speech-related deficits in PD are related to abnormal laryngeal somatosensory function, and that this function may degrade as a function of disease severity. Thus, PD may represent a model of airway sensorimotor disintegration, highlighting the important role of the basal ganglia and related neural networks in the integration of laryngeal sensory input for speech-related motor control.     

喉癌相关miRNA的研究进展

喉癌是耳鼻咽喉头颈外科常见的肿瘤之一,其发病机制尚未完全明确。研究发现,微小RNA(miRNA)在喉癌的发生过程中发挥着重要的作用。miRNA的表达异常(如miR-106b-25和miR-21等的上调,miR-375和let-7a等的下调)与喉癌的发生有关。在喉癌组织中异常表达的miRNA为喉癌的诊断提供了新标志物,而相关miRNA更是为喉癌治疗提供了潜在的靶点。