1/106. A Rapp-Hodgkin like syndrome in three sibs: clinical, dental and dermatoglyphic study.Rapp-Hodgkin ectodermal dysplasia is an autosomal dominant disorder characterized by distinctive craniofacies, cleft lip or palate, oligodontia or anodontia, hypoplasia of the nails, and a decrease in or absence of the sweat glands and hair follicles. We have identified a family in which three children display clinical features similar to Rapp-Hodgkin syndrome. The father and two other sisters of the patient had normal facial features, but had short stature and had dental anomalies, the latter suggestive of ectodermal dysplasia. The overall clinical, dental, and dermatoglyphic findings of these patients are discussed in relation to reports of families with Rapp-Hodgkin syndrome.- - - - - - - - - - ranking = 1keywords = palate, cleft (Clic here for more details about this article) |
2/106. Evidence that AEC syndrome and Bowen--Armstrong syndrome are variable expressions of the same disease.Several clinical disorders combine ectodermal dysplasia (ED) and cleft lip and/or palate (CL/P). These conditions have been recognized as a group of diseases with a narrow phenotypic spectrum and multiple points of overlap. We report a patient with a clinical diagnosis of AEC syndrome (ankyloblepharon, ectodermal defects, and CL/P) who additionally has some features observed in a different ED-CL/P disorder, Bowen-Armstrong syndrome. Because of this clinical overlap, we suggest that AEC syndrome and Bowen-Armstrong syndrome may be variable manifestations of the same pathologic entity.- - - - - - - - - - ranking = 1keywords = palate, cleft (Clic here for more details about this article) |
3/106. counseling dilemmas in EEC syndrome.In this report we describe a prenatally diagnosed case with four-limb ectrodactyly and cleft lip/palate. The family history reveals three-generation oligodontia. The difficulties in counseling of the families with EEC syndrome are discussed.- - - - - - - - - - ranking = 1keywords = palate, cleft (Clic here for more details about this article) |
4/106. Ectrodactyly-ectodermal dysplasia-clefting syndrome.Ectrodactyly-ectodermal dysplasia-clefting syndrome is a rare congenital anomaly that affects tissues of mesodermal and ectodermal origin. Musculoskeletal involvement frequently requires orthopedic intervention. The authors present a review of the literature pertaining to this rare syndrome as well as a case report of a female patient who exhibited the complete clinical triad. A description of the surgical management of her condition is also presented.- - - - - - - - - - ranking = 1.8806312127899keywords = cleft (Clic here for more details about this article) |
5/106. Ectrodactary, ectodermal dysplasia, and cleft lip-palate syndrome.The EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip-palate) is a rare disorder inherited as an autosomal dominant trait or can occur sporadically. We describe a case of this syndrome with chronic ocular surface disorder secondary to abnormalities of ocular adnexia.- - - - - - - - - - ranking = 5keywords = palate, cleft (Clic here for more details about this article) |
6/106. Mixed clefting type in Rapp-Hodgkin syndrome.Mixed clefting type (MCT) is the rare occurrence of cleft lip, with or without cleft palate, and cleft palate alone in the same pedigree. Here we present a family with Rapp-Hodgkin syndrome (RHS) that manifests MCT, and use this rare finding to suggest that RHS may be related not only to phenotypically similar syndromes, but seemingly dissimilar ones as well. RHS has obvious phenotypic overlap with other ectodermal dysplasia-clefting syndromes (EDCS), such as ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) and ankyloblepharon-ectodermal dysplasia-clefting syndrome (AEC), all of which show MCT. MCT is also found in the allelic disorders van der Woude syndrome (VDW) and popliteal-pterygium syndrome (PPS). Therefore, while VDW and PPS have little clinical overlap with the EDCS, the common finding of MCT may indicate closer relationships at the developmental or genetic level.- - - - - - - - - - ranking = 8.0903178629844keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
7/106. EEC syndrome (ectrodactyly-ectodermal dysplasia-clefting): a clinical case report.The EEC syndrome (ectrodactyly-ectodermal dysplasia -clefting) is defined as a multiple congenital anomaly syndrome characterized by ectodermal dysplasia, distal limb anomaly, cleft lip/palate, and lacrimal duct anomalies. This case report reviews and presents clinical symptoms and treatment of the EEC syndrome.- - - - - - - - - - ranking = 2.8806312127899keywords = palate, cleft (Clic here for more details about this article) |
8/106. Hypohidrotic ectodermal dysplasia with tibial aplasia.We report an inbred Tunisian family, in which 19 members had an ectodermal syndrome involving the teeth, hair, nails and skin. Ectrodactyly occurred as an isolated manifestation in one, and with tibial aplasia in two others. None had facial clefts. Dysplastic ears were part of the syndrome.- - - - - - - - - - ranking = 0.37612624255799keywords = cleft (Clic here for more details about this article) |
9/106. Bilateral nephroblastoma in familial Hay-Wells syndrome associated with familial reticulate pigmentation of the skin.We report on a girl with maxillary hypoplasia, prominent ears, dry sparse hair, palmar and plantar keratoderma, dystrophic nails, patchy pigmented skin lesions in hands and feet and bilateral wilms tumor. She was born with bilateral ankyloblepharon. The mother and maternal grandmother presented similar ectodermal defects. skin biopsies of the patient and her mother proved to contain cells overexpressing p63 by immunohistochemistry. Karyotypes of the patient and her mother, and FISH studies on lymphocytes and tumor cells of the girl demonstrated a mosaic 11p15.5 deletion. These findings suggest a relationship between familial ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome (Hay-Wells syndrome) and familial reticulate pigmentation of the skin. In addition the development of wilms tumor and 11p15.5 region involvement expand the genetic relationship between these conditions and the enlarging group of genetic entities related to nephroblastoma.- - - - - - - - - - ranking = 1keywords = palate, cleft (Clic here for more details about this article) |
10/106. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts.EEC syndrome is an autosomal dominant disorder with the cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. EEC syndrome has been linked to chromosome 3q27 and heterozygous p63 mutations were detected in unrelated EEC families. In addition, homozygous p63 null mice exhibit craniofacial abnormalities, limb truncations, and absence of epidermal appendages, such as hair follicles and tooth primordia. In this study, we screened 39 syndromic patients, including four with EEC syndrome, five with syndromes closely related to EEC syndrome, and 30 with other syndromic orofacial clefts and/or limb anomalies. We identified heterozygous p63 mutations in three unrelated cases of EEC syndrome, two iowa white families and one sporadic case in a Filipino boy. One family is atypical for EEC and has features consistent with Hay-Wells syndrome. In this family, the mutation ablates a splice acceptor site and, in the other two, mutations produce amino acid substitutions, R280C and R304Q, which alter conserved dna binding sites. Germline mosaicism was detected in the founder of the mutation in one case. These three cases show significant interfamilial and intrafamilial variability in expressivity. We also screened p63 in 62 patients with non-syndromic orofacial clefts, identifying an intronic single nucleotide polymorphism but finding no evidence of mutations that would explain even a subset of non-syndromic orofacial clefts. This study supports a common role for p63 in classical EEC syndrome, both familial and sporadic, but not in other related or non-syndromic forms of orofacial clefts.- - - - - - - - - - ranking = 3.3851361830219keywords = cleft (Clic here for more details about this article) |
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