1/20. Characterization of a small supernumerary ring marker derived from chromosome 2 by forward and reverse chromosome painting.A small ring-shaped supernumerary marker chromosome (SMC) was detected in 50% of metaphase cells in an 18-month-old boy with mental retardation and multiple congenital anomalies. Conventional cytogenetic methods had failed to identify the origin of the marker. When the patient was age 11.5 years, we defined the origin of the SMC by fluorescence in situ hybridization using a battery of centromere-specific dna probes. The marker was positive with the probe for locus D2Z. More detailed characterization was achieved by using chromosome 2 arm-specific and marker-specific DNA libraries, which were constructed by microdissection of the two arms chromosome 2 and SMC with subsequent amplification of the chromosomal material by a degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR). The marker was identified as r(2)(p11.2-->q14.1). The propositus had dolichocephaly, coarse hair, low-set ears, exophthalmos, epicanthal folds, strabismus, depressed nasal bridge, high-arched palate, excess of skin on the neck, tapered fingers with mild clinodactyly, talipes varus on the right, inguinal hernia, hypogenitalism, muscular hypotonia, and mental retardation. This is the first case of SMC derived from chromosome 2 that was characterized by forward and reverse chromosome painting.- - - - - - - - - - ranking = 1keywords = palate (Clic here for more details about this article) |
2/20. 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 = 1.688321013554keywords = cleft (Clic here for more details about this article) |
3/20. scoliosis in Gordon's syndrome.Gordon's syndrome is described as an autosomal dominant condition with the characteristics of short stature, a stiff spine, camptodactyly (89%), cleft palate (27%) and club feet (73%). The authors present a case report of a patient with this rare entity complicated by an unusual complex spinal deformity. There are no prior reports in the literature concerning operative or nonoperative management of deformity in this patient population. scoliosis in Gordon's syndrome shares the characteristics of an arthrogrypotic neuromuscular curve and demands extensive soft tissue release for optimal correction.- - - - - - - - - - ranking = 12.747714451047keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
4/20. A patient with the Larsen syndrome.A child with the Larsen syndrome is described. His multiple malformations included a flattened nasal bridge and other unusual facial features, a cleft palate, a poorly developed larynx and dislocations involving several joints.- - - - - - - - - - ranking = 12.747714451047keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
5/20. fertility in a female with mosaic trisomy 8.OBJECTIVE: To describe the first term pregnancy in a patient with the characteristic features of trisomy 8 mosaicism. DESIGN: Case report. SETTING: University department. PATIENT(S): The 23-year-old proband had a history of cleft palate, mixed bilateral hearing loss, short stature, and developmental delay. She had dysmorphic craniofacial features, mild musculoskeletal abnormalities, and abnormal skin pigmentation. Her karyotype was mos47,XX, 8[17]/46,XX[83]. INTERVENTION(S): cytogenetic analysis and genetics evaluation of the proband and her child. MAIN OUTCOME MEASURE(S): The first successful pregnancy in a phenotypically abnormal trisomy 8 patient. RESULT(S): The pregnancy was largely uncomplicated except for an abnormal triple screen, with subsequent normal amniocentesis, and a fetal ultrasound revealing a clubfoot anomaly. cytogenetic analysis of the child showed a 46,XX karyotype. CONCLUSION(S): Our review indicates that reproduction in females with mosaic trisomy 8 is possible, albeit uncommon. Until additional cases are reported and any specific risks identified, prenatal diagnosis of any pregnancies in mosaic trisomy 8 patients would seem prudent. In addition, this and previous cases illustrate the need to effectively counsel families of mosaic trisomy 8 children about the possibility of reproduction.- - - - - - - - - - ranking = 12.747714451047keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
6/20. prenatal diagnosis of double autosomal mosaicism (47,XX, 8/47,XX, 14): phenotype and molecular cytogenetic analysis on different tissues.A female fetus with multiple congenital anomalies was found to have double autosomal mosaicism, 47,XX, 8/ 47,XX, 14 on chromosome analysis via amniocentesis. At delivery, the proband displayed dysmorphic features of hypertelorism, micrognathia, low set ears, cleft palate, clubfeet, omphalocele, absent gallbladder and congenital heart defects. fluorescence in situ hybridization demonstrated a marked discrepancy in cell line populations in the tissues examined.- - - - - - - - - - ranking = 12.747714451047keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
7/20. Combined anomalies of the palate in Mohr syndrome: is preoperative electromyography of the palate useful?The authors present a girl with typical characteristics of oral-facial-digital syndrome type II (Mohr syndrome) with a cleft soft palate and pendulous tongue nodules. Because of feeding difficulties, electromyography was performed of both morphologically identical halves of the soft palate. One half showed a normal muscle action potential and in the other half electrical silence was registered. Exploratory surgery during palatoplasty showed a fatty hamartoma in the half of the palate in which no electric potentials had been registered.- - - - - - - - - - ranking = 11.844160506777keywords = palate, cleft (Clic here for more details about this article) |
8/20. Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome.We report on 5 unrelated Brazilian children with short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. Genetic aspects and phenotypic manifestations are compared with those of previous reports of acrofacial dysostoses and with other Robin sequence syndromes. We suspect that these patients present a previously undescribed autosomal recessive syndrome.- - - - - - - - - - ranking = 4.2208025338851keywords = cleft (Clic here for more details about this article) |
9/20. cleft lip and palate, lower lip pits, and limb deficiency defects.cleft lip or palate and lower lip pits are typical features of the autosomal dominantly inherited Van der Woude syndrome. Limb defects have not been reported in this syndrome so far. A girl with a unilateral complete cleft lip and palate, bilateral lower lip pits, and amniotic deformities of all four limbs is reported and the possibility of chance occurrence of cleft lip and palate, lower lip pits, and limb defects is discussed.- - - - - - - - - - ranking = 8.688321013554keywords = palate, cleft (Clic here for more details about this article) |
10/20. Camptodactyly, cleft palate, and club foot (the Gordon syndrome). A report of a large pedigree.A second family is described in which camptodactyly, club foot, and cleft palate (the Gordon syndrome) is transmitted in a pattern consistent with autosomal dominant inheritance with reduced penetrance and variable expressivity. penetrance appears to be more reduced in females than in males, and cleft palate is the least frequently manifested trait.- - - - - - - - - - ranking = 76.486286706282keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
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