1/21. Imperforate anus in Feingold syndrome.A father and daughter had the characteristic findings of Feingold syndrome including microcephaly, short palpebral fissures, brachydactyly with clinodactyly of fifth fingers, and bilateral syndactyly of second to third and fourth to fifth toes. The infant presented with long-gap esophageal atresia without fistula (type A). Her father, who had short stature and learning disabilities, had congenital imperforate anus with a recto-vesical fistula. This is the first report of distal intestinal atresia in Feingold syndrome.- - - - - - - - - - ranking = 1keywords = intestinal atresia, atresia (Clic here for more details about this article) |
2/21. Vertebral anomalies in a new family with ODED syndrome.We report a new family with oculodigitoesophagoduodenal syndrome (ODED syndrome), which associates microcephaly, abnormalities of the hands and feet, shortened palpebral fissures, tracheoesophageal fistula and duodenal atresia. In addition, previously unreported vertebral anomalies are described. This report further delineates the clinical and radiographic spectrum of this syndrome, providing useful information for diagnosis and family counseling.- - - - - - - - - - ranking = 0.04178552503246keywords = atresia (Clic here for more details about this article) |
3/21. Possible new syndrome of microcephaly with cortical migration defects, Peters anomaly and multiple intestinal atresias: a multiple vascular disruption syndrome.A possible new multiple vascular disruption symdrome is described. The male patient had microcephaly with cortical migration defects, Peters anomaly and multiple inestinal atresias.- - - - - - - - - - ranking = 3.8746434249026keywords = intestinal atresia, atresia (Clic here for more details about this article) |
4/21. "Apple-peel" intestinal atresia, ocular anomalies, and microcephaly syndrome: brain magnetic resonance imaging study.We report on a male child with "apple-peel" atresia associated with microcephaly and ocular anomalies. To date, no magnetic resonance imagings have been published. We report on the fourth reported case with this phenotype, but the first to be studied by brain magnetic resonance imaging.- - - - - - - - - - ranking = 3.8746434249026keywords = intestinal atresia, atresia (Clic here for more details about this article) |
5/21. choanal atresia: the result of maternal thyrotoxicosis or fetal carbimazole?We present the fourth published case of a child affected with choanal atresia following maternal treatment with carbimazole. The mother was receiving her highest dose of carbimazole at the crucial period for development of the choanae, between days 35 and 38.- - - - - - - - - - ranking = 0.2089276251623keywords = atresia (Clic here for more details about this article) |
6/21. documentation of anomalies not previously described in Fryns syndrome.We report on a case of Fryns syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia. These defects add to our knowledge of the phenotype of Fryns syndrome.- - - - - - - - - - ranking = 0.04178552503246keywords = atresia (Clic here for more details about this article) |
7/21. Comparison of phenylketonuric and nonphenylketonuric sibs from untreated pregnancies in a mother with phenylketonuria.Two children, one with phenylketonuria (PKU) and the other nonphenylketonuric, from untreated pregnancies in a mother with PKU provided the opportunity to compare the degree of damage from maternal PKU between these genotypically different fetuses. Both the phenylketonuric offspring and her nonphenylketonuric sib were microcephalic at birth and had congenital anomalies, esophageal atresia in the former and congenital dislocation of the hip in the latter. However, the phenylketonuric child also had intrauterine growth retardation while the nonphenylketonuric sib had normal weight and length at birth. Both children are mentally retarded with an IQ below 50 in the phenylketonuric child despite early dietary treatment for PKU and an IQ of 54 in the nonphenylketonuric sib. Both children also have hypoplasia of the corpus callosum and enlarged cerebral ventricles. This experience and review of the literature indicates that the residual liver phenylalanine hydroxylase activity of a nonphenylketonuric fetus offers little or no protection from damage in untreated maternal PKU. Consequently, the outcome in maternal PKU is likely to depend on control of the maternal biochemical abnormalities in the mother regardless of whether the fetus has or does not have PKU.- - - - - - - - - - ranking = 0.04178552503246keywords = atresia (Clic here for more details about this article) |
8/21. microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.We present a patient with microcephaly, jejunal atresia, aberrant right tracheobronchial tree, mild left blepharoptosis, and corectopia (irregular pupil), left sectoral iris stromal hypoplasia and peripheral anterior synechia, and 46,XY sex reversal. Testosterone and dihydrotestosterone (DHT) levels were within normal limits for a male infant at 3 weeks of age. Gonadectomy at age 18 months revealed immature testis tissue and no evidence of Mullerian structures. PCR amplification of the androgen receptor (AR) gene and flanking genomic regions revealed no evidence for deletion. Array-comparative genomic hybridization (array-CGH) for assessment of gene dosage in other regions of the genome was normal. This patient represents a multiple anomaly disorder similar to intestinal atresia-ocular anomalies-microcephaly syndrome (MIM#243605) but incorporating 46,XY sex reversal with testicular tissue, demonstrating a defect in the sexual differentiation pathway.- - - - - - - - - - ranking = 1.1671421001298keywords = intestinal atresia, atresia (Clic here for more details about this article) |
9/21. A new case of a severe clinical phenotype of the cat-eye syndrome.A new case of severe clinical phenotype of the cat-eye syndrome: We report on a female infant with severe clinical phenotype of Cat-eye Syndrome (CES). At birth, she had respiratory distress and marked hypotonia. physical examination showed major craniofacial anomalies including microcephaly, bilateral total absence of the external ears, hypertelorism, bilateral ocular coloboma of iris and micrognathia. In addition, she had anal stenosis, a patent ductus arteriosus and intra- and extra- hepatic biliary atresia. She deteriorated with the development of bradycardia. She died at age one month of cardiac failure. cytogenetic analysis of the proband showed an extra de novo small bisatelllited marker chromosome in all cells examined. Molecular cytogenetic analysis with fluorescence in situ hybridization (FISH) identified the marker as a CES chromosome. Thus, the patient's karyotype was: 47, XX, idic(22)(pter-->q11.2 ::q11.2-->pter). The duplication breakpoints giving rise to the CES chromosome were distal to the digeorge syndrome (DGS) locus 22q11.2. The marker could be classed as a type 11 symmetrical (10). According to a recent review of CES literature (1) only 41 % of the CES patients have the combination of iris coloboma, anal anomalies and preauricular anomalies. Almost 60% are hard to recognize by their phenotype alone. Only twelve patients showed a severe clinical phenotype leading to the death of the child. This phenotypic variability increases the difficulties of genetic counseling.- - - - - - - - - - ranking = 0.04178552503246keywords = atresia (Clic here for more details about this article) |
10/21. growth deficiency in oculodigitoesophagoduodenal (Feingold) syndrome--case report and review of the literature.We report a case of Feingold syndrome with oesophageal atresia and microcephaly. Marked short stature was present at the age of 9 years. Although short stature has not previously been commented upon as a feature of this syndrome, a review of the literature indicates that it has occurred in several previously reported cases. Of the 18 cases in the literature for which height was recorded, three (16.7%) had height on or below the 0.4th centile, while nine (50%) had height on or below the 10th centile. We suggest that short stature is likely to be a phenotypic feature of Feingold syndrome.- - - - - - - - - - ranking = 0.04178552503246keywords = atresia (Clic here for more details about this article) |
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