1/13. Pseudotrisomy 13 syndrome in siblings.We describe a brother and sister who both had holoprosencephaly, polydactyly, cardiac lesions and a normal karyotype. The parents were first cousins and a diagnosis of pseudotrisomy 13 syndrome is suggested. This report provides further support that the inheritance of pseudotrisomy 13 syndrome is autosomal recessive.- - - - - - - - - - ranking = 1keywords = polydactyly (Clic here for more details about this article) |
2/13. Pseudo-trisomy 13 syndrome: report of one case.A new syndrome associated with holoprosencephaly, midline facial defects and postaxial polydactyly but normal chromosomes was described. The term "pseudo-trisomy 13 syndrome" was used because of the resemblance to trisomy 13. Only a few cases have appeared in the literature, and this is the first chinese case.- - - - - - - - - - ranking = 1keywords = polydactyly (Clic here for more details about this article) |
3/13. Alobar holoprosencephaly: report of two cases with unusual findings.holoprosencephaly, a disorder resulting from failure of cleavage or incomplete differentiation of the forebrain structures at various levels or to various degrees, is related to hereditary factors, chromosomal anomalies, cytogenetic abnormalities, and environmental teratogenic factors. We report on 2 cases of alobar holoprosencephaly, with similar physical findings, including microcephaly, microphthalmia, cebocephalus, choanal atresia, pseudo cleft palate, distended abdomen, and acrocyanosis. The brain echogram of these 2 patients demonstrated fused thalami and a single large U-shaped ventricular cavity. Chromosome studies of these 2 patients were normal. The findings of the autopsies confirmed the clinical presentations. One of our cases had a clinical picture similar to that of holoprosencephaly-polydactyly syndrome. The other had the rare anatomical finding of a polylobuated spleen. Because of the poor prognosis of alobar holoprosencephaly, early prenatal diagnosis is recommended.- - - - - - - - - - ranking = 1keywords = polydactyly (Clic here for more details about this article) |
4/13. Pseudo-trisomy 13 syndrome with upper limb shortness and radial hypoplasia.We report on a fetus with holoprosencephaly, postaxial polydactyly, multiple visceral anomalies, upper limb shortness, and radial hypoplasia with normal chromosomes. We provide a brief review of the newly delineated "pseudo-trisomy 13 syndrome." Severe limb shortness of radial hypoplasia has not been described previously in this syndrome. The present case may expand the spectrum of the pseudo-trisomy 13 syndrome, or may represent a distinct entity.- - - - - - - - - - ranking = 1keywords = polydactyly (Clic here for more details about this article) |
5/13. Pseudotrisomy 13: clinical findings and genetic implications.The combination of holoprosencephaly, postaxial polydactyly, and normal karyotype has been termed pseudotrisomy 13 syndrome. Here, we report the prenatal diagnosis of pseudotrisomy 13 in three siblings suggesting autosomal recessive inheritance of this syndrome. Clinical overlap with hydrolethalus syndrome, smith-lemli-opitz syndrome, Meckel syndrome, and pallister-hall syndrome is discussed.- - - - - - - - - - ranking = 1keywords = polydactyly (Clic here for more details about this article) |
6/13. holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.holoprosencephaly (HPE) is the most common developmental defect affecting the forebrain and midface in humans. The aetiology of HPE is highly heterogeneous and includes both environmental and genetic factors. Here we report on a boy with mild mental retardation, lobar HPE, epilepsy, mild pyramidal syndrome of the legs, ventricular septal defect, vesicoureteral reflux, preaxial polydactyly, and facial dysmorphisms. genome-wide tiling path resolution array based comparative genomic hybridisation (array CGH) revealed a de novo copy-number gain at 5q35.1 of 1.24 Mb. Additional multiplex ligation-dependent probe amplification screening of a cohort of 31 patients with HPE for copy-number changes at the 5q35.1 locus did not reveal any additional genomic anomalies. This report defines a novel 1.24 Mb critical interval for HPE and preaxial polydactyly at 5q35.1. The duplicated region encompasses seven genes: RANBP17, TLX3, NPM1, FGF18, FBXW11, STK10, and DC-UbP. Since FBXW11 is relatively highly expressed in fetal brain and is directly involved in proteolytic processing of GLI3, we propose FBXW11 as the most likely candidate gene for the HPE and prexial polydactyly phenotype. Additional research is needed to further establish the role of genes from the 5q35.1 region in brain and limb development and to determine the prevalence of copy number gain in the 5q35.1 region among HPE patients.- - - - - - - - - - ranking = 7keywords = polydactyly (Clic here for more details about this article) |
7/13. Familial holoprosencephaly, heart defects, and polydactyly.We describe a pair of sibs with microcephaly, hypoplastic nose, cleft lip/palate, a complicated Fallot-like cardiac defect, and holoprosencephaly and polydactyly. One sib appeared to have normal chromosomes. The healthy parents were second cousins. This constellation of signs has been described before in at least 14 other patients, and was possibly present in several others. Although there is overlap with a number of similar conditions, especially hydrolethalus syndrome, this probably represents a separate entity. Three pairs of sibs and consanguinity in 3 families point to autosomal recessive pattern of inheritance.- - - - - - - - - - ranking = 5keywords = polydactyly (Clic here for more details about this article) |
8/13. holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (smith-lemli-opitz syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance seems likely.- - - - - - - - - - ranking = 5keywords = polydactyly (Clic here for more details about this article) |
9/13. Pseudo-trisomy 13 syndrome.We have coined the term "pseudo-trisomy 13 syndrome" to designate cases of holoprosencephaly, severe facial anomalies, postaxial polydactyly, various other congenital defects, and normal chromosomes. Eleven instances are summarized. Two pairs of sibs and two other cases with consanguinity suggest autosomal recessive inheritance. Autosomal recessive inheritance is possible. Alternately, an undetected microdeletion and etiologic heterogeneity (some cases possibly representing dominant new mutations) must be considered. Further delineation is necessary. It is hoped that this paper will serve as a focus for further discussion of the problem.- - - - - - - - - - ranking = 1keywords = polydactyly (Clic here for more details about this article) |
10/13. Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs.We report on an Arabic sibship originating from morocco in which four children manifest an undiagnosed sublethal multiple congenital anomaly/mental retardation (MCA/MR) syndrome of intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, telecanthus or true hypertelorism with squint, flat face, unusual hooked nose, very narrow mouth, retrognathia, and extremely severe neurologic impairment. One child was stillborn. Three others died in a cachectic state during their second year. One child had a severe cerebral malformation compatible with semilobar holoprosencephaly. Other inconstant manifestations are anterior chamber cleavage defect, preaxial polydactyly of feet, interventricular septal defect, and atresia of the external auditory meatus. Autosomal recessive inheritance is likely.- - - - - - - - - - ranking = 1keywords = polydactyly (Clic here for more details about this article) |
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