1/77. New case of the Richieri-Costa/Guion-Almeida syndrome.We describe a boy with multiple congenital anomalies/mental retardation (MCA/MR) syndrome. He has growth retardation, microbrachycephaly, coloboma of the iris, and typical facial anomalies including cleft lip/palate. This phenotype overlaps with that described by Richieri-Costa and Guion-Almeida in three Brazilian brothers. The new patient provides further evidence of the existence of this rare clinical entity.- - - - - - - - - - ranking = 1keywords = palate, cleft (Clic here for more details about this article) |
2/77. Say syndrome: report of a familial case.We describe a new case of Say syndrome. This syndrome is an autosomal dominant condition characterized by cleft palate, short stature of prenatal onset, large protruding ears and microcephaly, delayed bone age, and renal anomalies. The first report was in 1975 by Say et al. in three generations of a family. Three additional reports of isolated cases were published. Our propositus is a 12-month-old boy with the cardinal signs of the syndrome whose mother has only microcephaly. To our knowledge this is the second familial report with evidence of highly variable expressivity. The occurrence of renal anomalies in a son of a normal sister of his mother suggests incomplete penetrance.- - - - - - - - - - ranking = 7.6927670789355keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
3/77. Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients.We report on 2 unrelated Brazilian patients, born to non-consanguineous parents, both with multiple anomalies including growth and mental retardation, microcephaly, telecanthus, cleft palate, preauricular skin tags/pit, camptodactyly, and foot anomalies. To our knowledge, this is a previously undescribed formal genesis syndrome. Clinical and genetic aspects are discussed.- - - - - - - - - - ranking = 38.463835394677keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
4/77. Raine dysplasia: a Brazilian case with a mild radiological involvement.We report a preterm male infant, the first child of a young consanguineous couple, whose physical examination revealed craniofacial disproportion with microcephaly, wide fontanelles, exophthalmos, low nasal root and hypoplastic nose, long philtrum, small mouth, high arched and narrow palate, micrognathia, dysplastic, low-set and rounded ears, short neck and, arthrogryposis. Postmortem findings included hypoplastic lungs. Radiological examinations showed mild and localized increased of bone density in the cranial vault and skull base and facial bones and undermodelled in the long bones. The above findings are characteristics of Raine dysplasia but the case reported here presents a mild bone involvement with only a localized bone sclerosis and absence of prenatal fractures. We discuss the possibility that this case represents an allelic mutation of the Raine gene. The consanguinity of the parents reinforces the hypothesis of autosomal recessive inheritance for this entity.- - - - - - - - - - ranking = 0.55951368204262keywords = palate (Clic here for more details about this article) |
5/77. Amniotic band sequence versus the autosomal recessive microcephaly, facial clefting, and preaxial polydactyly syndrome.We report a Brazilian boy, born to consanguineous parents. On the left arm there was a proximal 'ring shaped' constriction, regional aplasia cutis, and a short hand with markedly hypoplastic fingers and nails 2-3. He also had a bilateral cleft lip/palate, preaxial polydactyly involving the distal phalanx of the left index finger, and a supernumerary nipple on the right. The differential diagnosis is discussed.- - - - - - - - - - ranking = 2.7619452718295keywords = palate, cleft (Clic here for more details about this article) |
6/77. microcephaly, microphthalmia, congenital cataract, with calcification of the basal ganglia: MCA/MR syndrome.We present a Hungarian girl with microcephaly, microphthalmia, congenital cataract, prominent nasal root, peaked nose, micrognathia with high arched palate, mild mental retardation, calcification of the basal ganglia and serology for the connatal infections. We suggest that our proband may be an allelic variant of COFS syndrome.- - - - - - - - - - ranking = 0.55951368204262keywords = palate (Clic here for more details about this article) |
7/77. Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia.We report a boy, born to consanguineous patients, with agammaglobulinemia associated with multiple physical anomalies: mild intrauterine growth retardation, extreme microphthalmia (clinical anophthalmia), severe microcephaly, blepharophimosis, long face with temporal narrowing, scaphocephalic skull shape, posterior cleft palate, hypoplastic, adducted thumbs with small nails, and short, inward turned halluces with absent distal phalanges and nails. Psychomotor development was moderately delayed. No mutations were found in exons of BKT and PAX-5 genes. This unreported constellation could represent a novel, autosomal recessive syndrome.- - - - - - - - - - ranking = 7.6927670789355keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
8/77. Distal 5q deletion syndrome: phenotypic correlations.We describe the phenotypes of two male sibs with partial monosomy of chromosome 5 [46,XY,der(5)inv ins(1;5)(p32;q35.4q34)]; maternally derived from a balanced insertion of 1 and 5 [inv ins (1;5)(p.32;q35.4q34)]. One sib had microcephaly, cleft lip and palate, facial anomalies, atrial (ASD) and ventricular (VSD) septal defects, camptodactyly 4th and 5th fingers, and developmental delay. The other sib showed microcephaly, facial anomalies, ASD, hypotonia, primary optic nerve hypoplasia, and developmental delay. Only seven other patients with 5q deletions distal to 5q33 have been reported and none showed the putative breakpoints identified in our two patients. All nine showed developmental delay or malformations of the CNS and facial anomalies; six of nine had defects of cardiac septation. Our two patients and one other were shown to have only one copy of the cardiac specific hCSX gene that defines in part the etiology of their ASD and VSD. The other components of their phenotypes cannot be related at present to genes identified in the deleted segments.- - - - - - - - - - ranking = 1keywords = palate, cleft (Clic here for more details about this article) |
9/77. Adducted thumb syndromes.The adducted thumbs syndrome is characterized by cleft palate, microcephaly, and dysmyelination. A fifth case of this syndrome is presented. Several other syndromes which may present with adducted thumbs are reviewed and re-assessed. The original contributions consist of discussions of (1) the possible pathogenesis of adducted thumbs in the congenital clasped thumb syndrome, and (3) the significance of adducted thumbs as a possible marker in sex-linked hydrocephalus.- - - - - - - - - - ranking = 7.6927670789355keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
10/77. Nasomaxillary hypoplasia and severe orofacial clefting in a child of a mother with phenylketonuria.The offspring of mothers with untreated or poorly controlled phenylketonuria (PKU) (McKusick 261600) are at risk of having congenital anomalies including microcephaly, congenital heart defects and developmental delay (Rouse et al 1997). We report a child born to a mother with poorly controlled PKU and suggest that the facial abnormalities seen in this child could be part of the specturn of maternal PKU embryopathy.- - - - - - - - - - ranking = 1.7619452718295keywords = cleft (Clic here for more details about this article) |
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