1/44. Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients.The combination of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate, and oligodontia was recently named blepharo-cheilo-dontic (BCD) syndrome. Different combinations of these signs have been found sporadically, with autosomal dominant inheritance. ectropion of the lower eyelids, lagophthalmia, and bilateral cleft lip/palate appear to be the more common manifestations. We report on two unrelated patients with bilateral cleft lip/palate and lagophthalmia. One of these two patients had familial cleft lip/palate in two generations, probably as a variable expression of an autosomal dominant gene.- - - - - - - - - - ranking = 1keywords = palate, cleft (Clic here for more details about this article) |
2/44. osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation.We describe a newborn girl with a lethal sclerosing bone dysplasia leading to prenatal skeletal alterations and microcephaly, proptosis, hypoplastic nose and midface, small jaw, cleft palate, hypertrophied gums, intracranial calcifications, and generalized osteosclerosis. There is a remarkable similarity between our patient and six previously reported infants subsequently categorized as having a distinct entity: Raine syndrome. Autosomal recessive inheritance is postulated based on parental consanguinity in several of the previous cases and in our patient.- - - - - - - - - - ranking = 1.1914276495535keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
3/44. Does the cranio-cerebello-cardiac syndrome (3C syndrome) include abdominal malformations?We report two children of nonconsanguineous parents, with hypotonia, severe psychomotor retardation, short stature, a prominent forehead, ptosis, a wide flat nasal bridge, broad nasal tip, a high arched palate, bilateral small cerebellar hemispheres, vermis hypoplasia, a large cisterna magna, and an atrial septal defect and a duodenal stenosis in one case. These features are part of the 3C syndrome. The duodenal stenosis present in one of our sibs has not been reported before in this syndrome.- - - - - - - - - - ranking = 0.16472963592961keywords = palate (Clic here for more details about this article) |
4/44. De novo direct duplication of 15q15-->q24 in a newborn boy with mild manifestations.Duplication of distal 15q results in a recognizable clinical phenotype. We report here on a 25-day-old boy with a de novo interstitial duplication of chromosome region 15q15-q24. The manifestations in this patient are milder than those of previously described patients and include minor facial anomalies, velopharyngeal insufficiency, branchial cleft cyst, and hydronephrosis. fluorescence in situ hybridization (FISH) using a chromosome 15 painting probe confirmed that the extra material is of chromosome 15 origin. Further analysis with the SNRPN probe demonstrated that the duplication is telomeric to the Prader-Willi/angelman syndrome critical region. This case delineates a broader spectrum for patients with duplication 15q syndrome.- - - - - - - - - - ranking = 0.085270364070392keywords = cleft (Clic here for more details about this article) |
5/44. 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 = 0.17054072814078keywords = cleft (Clic here for more details about this article) |
6/44. W syndrome: report of three cases and review.Only three cases of W syndrome have been reported. These patients have a typical "pugilistic" face, incomplete oral cleft, absent upper incisors, mental retardation, spasticity, seizures, and acne scars. Two of them had additional skeletal anomalies. Here we report on three male patients with findings compatible with the W syndrome. We emphasize the importance of some constant findings and describe additional signs. Familial history supports X-linked dominant heredity, as postulated previously.- - - - - - - - - - ranking = 0.085270364070392keywords = cleft (Clic here for more details about this article) |
7/44. Peculiar facies, obesity, cleft lip and palate, growth hormone deficiency and mental retardation: a new syndrome?A female child with peculiar facies, obesity, cleft lip and palate, growth hormone deficiency and mental retardation is described. The present case does not appear to fit any of the known syndromes.- - - - - - - - - - ranking = 1.25keywords = palate, cleft (Clic here for more details about this article) |
8/44. Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome.Most cases with Kabuki syndrome (KS) were reported sporadically. Recently, a few familial cases of KS were reported. This report provides further evidence that the KS is inherited as a dominant trait with variable expressivity. The proposita is an 18-month-old girl with facial findings characteristic of Kabuki syndrome, prominent fingertip-pads, a midsagittal cleft of vertebral body D4, hypotonia, and psychomotor retardation. Her mother had a similar facial appearance, prominent, cup-shaped ears, an abnormal dentition, early breast development, and low-normal intelligence. Because mother and daughter both had evident Kabuki syndrome, we conclude that KS in this family is inherited as a dominant trait. Further family history supports this finding. Microscopic examination of the hair of the proposita shows abnormalities consisting of trichorrhexis nodosa, twisting of the hairshafts, and irregularity of the diameter of the hair, as was described recently in a patient with KS. This could be another occasional finding in this syndrome, but further studies are required. The presence of abnormal hair, nails, and the commonly described tooth abnormalities in KS further suggest ectodermal involvement in this syndrome.- - - - - - - - - - ranking = 0.085270364070392keywords = cleft (Clic here for more details about this article) |
9/44. Chromosome 7q22-q31 duplication: report of a new case and review.We report on a girl with psychomotor retardation, growth retardation, microcephaly, frontal bossing, large ears, small nose, high arched and narrow palate, short neck, and generalized hirsutism. cytogenetic analysis in addition to fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) showed the presence of a chromosome 7q22-->q31.3 duplication. Comparison with other reported cases shows some resemblance but insufficient to enable us to establish a definite syndrome with specific clinical manifestations. The importance in better analyzing further cases by new molecular cytogenetics techniques is raised.- - - - - - - - - - ranking = 0.16472963592961keywords = palate (Clic here for more details about this article) |
10/44. MCA/MR syndrome with severe pre- and postnatal growth retardation, deep mental retardation, distinct facial appearance with nasal hypoplasia, cleft palate and retino-choroidal coloboma in two unrelated female patients.We describe the clinical findings and natural history in two unrelated deeply mentally retarded females, now 28 and 20 years old respectively. Both presented prenatal growth retardation and severe postnatal growth retardation. Their craniofacial appearance is distinct with nasal hypoplasia, triangular mouth and thin lips. Both have a cleft palate and a retinal coloboma at the right eye. Motor development is below the age of 1 year with a complex neurological syndrome with axial hypotonia and spastic quadriplegia.- - - - - - - - - - ranking = 5.9571382477674keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
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