1/24. 4p- phenotype in an infant with t(4p-;19p or q )mat translocation.Four family members had an apparently balanced t(4p-;19p or q ) translocation indentified by Giemsa banding. One of these individuals, a male infant, has a 4p- phenotype with seizures, large bilateral cleft palate, abnormal anterior fontanel, abnormally shaped ears, hypertelorism, small penis with third-degree hypospadias, and bilateral simian creases. It is theorized that 4p material containing loci essential for normal development was lost in this infant by a simple deletion or "aneusomy by recombination."- - - - - - - - - - ranking = 1keywords = cleft palate, cleft, palate (Clic here for more details about this article) |
2/24. Additional malformations in femoral hypoplasia: unusual facies syndrome.This syndrome comprises of bilateral femoral hypoplasia and unusual facies comprises of short nose with broad tip, elongated philtrum, thin upper lip, small lower jaw, cleft palate and antimongolian slant of palpebral fissure. Etiology is idiopathic, sporadic, few families have been reported to have autosomal dominant inheritance. We report a case with the additional finding of unilateral complete aplasia of femur, encephalocele, complete cleft lip, bilateral absence of 5th metatarsal and toe and hypospadias. The mode of inheritance appears to be sporadic mutation in this case.- - - - - - - - - - ranking = 1.0765769265533keywords = cleft palate, cleft, palate (Clic here for more details about this article) |
3/24. cleft palate, hypotelorism, and hypospadias: Schilbach-Rott syndrome.A mother and two sons have cleft palate and facial appearance closely resembling cases described by Schilbach and Rott in 1988. One of the two males has hypospadias and learning disability and, like his mother, is of short stature. The family described by Schilbach and Rott also supports an autosomal dominant inheritance pattern.- - - - - - - - - - ranking = 1.2933132335533keywords = cleft palate, cleft, palate (Clic here for more details about this article) |
4/24. Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome?This paper presents a patient with the following malformations: split hand and split foot on the left side, a hypoplastic fifth ray of the right hand and a hypoplastic first ray of the right foot with a small cleft between the first and second ray; eye abnormalities which consist of a complete iris coloboma of the left eye in an atypical position (cranio-temporal) and a coloboma of the choroid in the right eye; a glandular hypospadias and terato-zoospermia. Since split hand/split foot can be caused by mutations in the p63 gene, mutation analysis of this gene was performed. However, sequencing analysis did not reveal a mutation. This malformation complex may represent a new syndrome.- - - - - - - - - - ranking = 0.07657692655327keywords = cleft (Clic here for more details about this article) |
5/24. Surgical management for posterior laryngeal cleft developing subglottic airway obstruction.A 3-year-old boy associated with Opitz syndrome including hypospadias and anorectal anomaly was transferred to Osaka University Hospital with orotracheal intubation because of respiratory distress after respiratory infection. He had laryngeal cleft diagnosed in the neonatal period because of symptoms including stridor and aspiration. After 2 attempts at extubation, tracheostomy was performed. Fiberscopic examination demonstrated obstruction of the airway from the vocal cord to subglottic space by inspired esophageal redundant mucosa. There was no improvement observed for 3 months. He underwent anterior repair of cleft, anterior laryngotracheoplasty with costal cartilage graft, closure of tracheostomy, and endoscopic Nissen fundoplication. The postoperative course during the subsequent year was uneventful without feeding or speaking disorders. Subglottic airway obstruction caused by inspired redundant mucosa is a rare complication in laryngeal cleft. Anterior laryngotracheoplasty and Nissen fundoplication should be considered for this complication, in addition to the usual procedure for cleft repair.- - - - - - - - - - ranking = 0.61261541242616keywords = cleft (Clic here for more details about this article) |
6/24. A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate.Pearson syndrome is a rare multiorgan mitochondrial disorder that causes substantial disability and usually leads to premature death. We describe an infant with Pearson syndrome who showed, in addition to the typical features of the syndrome, cleft lip and palate and hypospadias.- - - - - - - - - - ranking = 0.74952617470792keywords = cleft, palate (Clic here for more details about this article) |
7/24. Re-evaluation of new X-linked syndrome for evidence of charge syndrome or association.Previously, we reported on a family with a new syndrome of cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis. This family has been cited in several reports as an example of familial charge syndrome. We do not think that the patients in this family have the charge syndrome or association. Therefore, we decided to do a follow-up study on this family to assess the subsequent development of the patients and to determine if they have the charge syndrome. We conclude that our patients do not have familial charge syndrome.- - - - - - - - - - ranking = 1keywords = cleft palate, cleft, palate (Clic here for more details about this article) |
8/24. The G and BBB syndromes: case presentations, genetics, and nosology.hypertelorism and hypospadias are described in four unrelated boys; bilateral cleft lip and cleft palate were also present in two of the boys and mild mental retardation in another. These features are compatible with both the G and BBB syndromes. When present, laryngotracheoesophageal anomalies or respiratory and swallowing difficulties are characteristic features of the G syndrome; otherwise facial features may be useful in distinguishing the G and BBB syndromes. Cases 1 and 2 had anteverted nares and a broad and flat nasal bridge, and Case 1 had shortened palpebral fissures, all consistent with the G syndrome. In contrast, Cases 3 and 4 had a high and broad nasal bridge as previously described in the BBB syndrome. The father of Case 1 had mild hypertelorism and first-degree hypospadias, demonstrating autosomal dominant inheritance in the G syndrome. The mothers of Cases 2, 3, and 4 all had mild hypertelorism consistent with autosomal dominant inheritance and partial male-sex limitation, as previously proposed for both the G and BBB syndromes.- - - - - - - - - - ranking = 1.0765769265533keywords = cleft palate, cleft, palate (Clic here for more details about this article) |
9/24. Phenotypic overlap of the BBB and G syndromes.Three males with similar malformations including hypertelorism, telecanthus, cleft lip and palate, and hypospadias, have been evaluated. One also had a laryngotracheoesophageal cleft and therefore was considered to have the G syndrome. The other two had no stridor, aspiration, or difficulty swallowing, and were considered to have the BBB syndrome. Both disorders are associated with multiple malformations and can be most readily distinguished by the presence of laryngoesophageal abnormalities in the G syndrome and differences in facial features evident later in childhood. The BBB syndrome appears to be inherited as an X-linked disorder with the affected female showing only telecanthus and hypertelorism. The G syndrome exhibits autosomal dominant inheritance with males more severely affected, although a few few females have had serious malformations in addition to telecanthus and hypertelorism. In the family with the G syndrome evaluated for this report, the mother of the affected infant had telecanthus, hypertelorism, and anosmia, the latter a feature not previously noted in this disorder.- - - - - - - - - - ranking = 0.22648216149485keywords = cleft, palate (Clic here for more details about this article) |
10/24. BBBG syndrome or Opitz syndrome: new family.We report on a family where the propositus had G syndrome, including laryngeal cleft, and another relative had the facial anomalies typical of the BBB syndrome. We review the literature on the BBB and G syndrome, and argue that no clinical or laboratory criteria permit a differential diagnosis of the two syndromes. Therefore, we suggest that they should be considered variable expression of the same gene. The name BBBG syndrome is proposed for the amalgamated syndrome.- - - - - - - - - - ranking = 0.07657692655327keywords = cleft (Clic here for more details about this article) |
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