1/48. Unknown syndrome in two male sibs with hypotonia, ptosis, hand malformations, 2/3 toes syndactyly, and mental retardation.We report two brothers from nonconsanguineous parents who share hypotonia, ptosis, high arched palate, camptodactyly, fifth fingers clinodactyly, 2/3 toes syndactyly and psychomotor retardation. Differential diagnosis, such as the Ohdo syndrome, the Morillo-Cucci syndrome, the Marden-Walker-like syndrome, and the Frydman syndrome and discussed.- - - - - - - - - - ranking = 1keywords = palate (Clic here for more details about this article) |
2/48. Popliteal pterygium syndrome in a Swedish family--clinical findings and genetic analysis with the van der Woude syndrome locus at 1q32-q41.The present study describes a Swedish family in which the mother and her son were affected with signs of popliteal pterygium syndrome (PPS, OMIM 119500). Both individuals had bilateral complete cleft lip and palate, oral synechiae, paramedian pits on the lower lip, toe syndactyly and a piece of triangular skin overgrowth on the great toes. The son also presented with soft tissue syndactyly of the 2nd and 3rd fingers. Although popliteal pterygium was not found, the above clinical features were diagnostic for PPS. Chromosomal abnormalities were not revealed in either case by cytogenetic analyses. A test for microdeletion in the VWS region at 1q32-q41 was performed in the family using 5 polymorphic microsatellite markers from the region. The affected son was found to be heterozygous for all 5 markers, suggesting that microdeletion at the VWS region was unlikely. The VWS locus, however, was not excluded by haplotype analysis of the family.- - - - - - - - - - ranking = 2.4889692304887keywords = cleft, palate (Clic here for more details about this article) |
3/48. Ectrodactyly and glaucoma associated with a 7q21.2-q31.2 interstitial deletion.An infant with ectrodactyly, glaucoma, cleft palate, congenital heart defect and genital anomalies associated with a 7(q21.2q31.2) deletion is presented. glaucoma and ectrodactyly in association with a 7q deletion has not been previously reported. We recommend that early ophthalmological assessment is required in infants with such deletions.- - - - - - - - - - ranking = 4.8025633480974keywords = cleft palate, cleft, palate (Clic here for more details about this article) |
4/48. cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome.We report on a male patient with a constellation of malformations, including cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect (CHD), and growth retardation. A similar association has been previously reported twice [Richieri-Costa and Orquizas (1987) Rev Brasil Genet X:787-792; Giannotti et al. (1995) J Med Genet 32:72-74], and autosomal recessive inheritance was proposed.- - - - - - - - - - ranking = 6.4889692304887keywords = cleft, palate (Clic here for more details about this article) |
5/48. 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 = 9.9338153829323keywords = cleft, palate (Clic here for more details about this article) |
6/48. Oral-facial-digital syndrome type II (Mohr syndrome): clinical and genetic manifestations.The oral-facial-digital syndromes (OFDS) represent a heterogenous group of disorders characterized by oral malformation, facial anomalies, and digital anomalies. Type II OFDS was reported by Mohr in 1941. Mohr syndrome is an autosomal recessive inherited disease characterized by median cleft lip, poly lobed tongue, absence of medial incisors, and polydactyly of hands and feet. Some other different expressive types of OFDS cases have been reported, and identified with 11 different clinical entities up to the present.Until now, only three cases of OFDS II in Japanese patients have been detected except for our patient. At this time, we observed a Japanese patient of Mohr syndrome with median cleft lip and tongue, hypertrophied frenula, absence of left medial incisor, and bilateral bifidity of great toe. Lip and tongue plasty was performed at 7 months after birth and toe plasty was done at 11 months with good results.- - - - - - - - - - ranking = 2.9779384609774keywords = cleft (Clic here for more details about this article) |
7/48. Ulnar-sided cleft hand.Three cases of ulnar-sided cleft hand are presented in which clefting was accompanied by ring finger absence in 2 and by small finger abduction, supination, shortening, and camptodactyly in all 3. An approach to surgical reconstruction is described with marked improvement in appearance.- - - - - - - - - - ranking = 8.9338153829323keywords = cleft (Clic here for more details about this article) |
8/48. 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 = 13.400723074398keywords = cleft (Clic here for more details about this article) |
9/48. Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of a case with perioral papillomatosis.We report a 13-year-old boy with ectodermal dysplasia, ectrodactyly, and syndactyly, hypospadias, photophobia, conductive hearing loss, and perioral papillomatosis. His father had ectrodactyly and hypotrichosis. The clinical picture suggested ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. The presence of perioral papillomatosis, classically seen in Goltz syndrome, has been reported only once before in EEC syndrome.- - - - - - - - - - ranking = 7.4448461524436keywords = cleft (Clic here for more details about this article) |
10/48. Pierre Robin sequence in a patient with ectrodactyly-ectodermal dysplasia-clefting syndrome: a case report and review of the literature.Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare condition first identified in 1970. The majority of cases are reported to be autosomal dominant with variable expression and penetrance. The most common clinical feature is ectodermal dysplasia. Ectrodactyly, cleft lip with or with out cleft palate and urogenital anomalies are also main clinical features of EEC syndrome. Pierre Robin (PR) sequence has the clinical findings of micro-retrognathia, retroposed tongue (glossoptosis), cleft of the secondary palate, and upper airway obstruction. Etiologically PR sequence is heterogeneous. It has been reported that less than 20% of cases are isolated, non-syndromic PR sequence. We present a case of a newborn male who was referred to our craniofacial clinic with EEC syndrome and PR sequence. This case represents a unique clinical association. We found no other reports in the literature of these two clinical entities occurring together. Upper airway obstruction of PR sequence, secondary to glossoptosis and micro-retrognathia, gives this association clinical relevance. In addition, this clinical association may represent a new gene locus associated with EEC syndrome.- - - - - - - - - - ranking = 16.225347961518keywords = cleft palate, cleft, palate (Clic here for more details about this article) |
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