1/44. New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: report on four Brazilian patients.We report on four unrelated Brazilian patients with growth and mental retardation, structural anomalies of the central nervous system (CNS), mainly callosal agenesis, prominent forehead, facial asymmetry, anophthalmia, heminasal a/hypoplasia, preauricular skin tags, structural anomalies of the external ears, and atypical clefting. This combination of anomalies is unique and, to our knowledge, is a previously undescribed syndrome of unknown etiology, although one of the patients was born to a consanguineous couple, suggesting the possibility of autosomal recessive inheritance. Clinical, genetic, and differential diagnosis aspects are discussed.- - - - - - - - - - ranking = 1keywords = cleft (Clic here for more details about this article) |
2/44. Campomelic dwarfism.The campomelic syndrome is a short-limb, usually fatal, neonatal dwarfism. It is characterized by bowed lower limbs, especially the tibia, usually associated with a cutaneous dimple over the anterior skin. There is delayed calcification of the epiphyses and delayed mineralization of the spine and pelvis. The cartilages of the tracheobronchial tree are hypoplastic, contributing to death from respiratory problems. Other associated abnormalities are unusual appearing facies, cleft palate, absent olfactory nerves and talipes equinovarus. Less commonly seen are cardiac, renal and brain anomalies.- - - - - - - - - - ranking = 2.8575538898534keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
3/44. Atlas hypoplasia manifesting as myelopathy in a child--case report.A 14-year-old Japanese boy presented with myelopathy due to atlas hypoplasia with complete posterior arch. Decompressive laminectomy of the atlas produced good neurological recovery, and follow-up T2-weighted magnetic resonance imaging showed disappearance of spinal cord edema. Congenital atlas stenosis may be symptomatic even in children, with no accompanying cervical spondylotic change. Such cases have previously occurred only in Asian adults. A radiological study of the patient's brother showed median cleft formation of the posterior arch of atlas, indicative of a wide spectrum of atlas anomalies and a possible genetic relationship between these anomalies.- - - - - - - - - - ranking = 0.2keywords = cleft (Clic here for more details about this article) |
4/44. trisomy 8 syndrome.trisomy 8 syndrome, with or without mosaicism, is characterized by the following clinical signs and symptoms: mental retardation, deformed skull, prominent forehad, high-arched palate, low-set and/or dysplastic ears, long and slender trunk, reduced joint mobility, and deep plantar furrows. The deep furrow or longitudinal crease of the sole may be pathognomonic for the syndrome. It should be noted that it has been seen in other rare syndromes. It is recommended that a child with mental retardation and associated multiple anomalies should be subjected to a cytogenetic study in order to define the incidence of this syndrome. Differnetial diagnosis should include: Fong's syndrome, arthrogryposis and otopalato-digital syndrome. It is interesting to note that there seem to be individuals who have had no physical abnormalities and have been identified during an evaluation for repeated abortions. The above described case of trisomy 8 mosaicism was seen and treated for many years by many different specialists without an accurate diagnosis.- - - - - - - - - - ranking = 0.22645688793057keywords = palate (Clic here for more details about this article) |
5/44. Biochemical abnormality associated with smith-lemli-opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former.We describe a female infant with morphologic features of Rutledge multiple-congenital-anomaly syndrome (RMCAS) and biochemical features of smith-lemli-opitz syndrome (SLOS). She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral inner epicanthal folds, a broad nasal bridge with slightly anteverted nares and patent choanae, low set ears and complex conchal formation, high-arched palate and thick maxillary alveolar ridges, and micrognathia. Her chest was broad, genitalia were ambiguous, and uterus was bicornuate. Skeletal abnormalities included a hypoplastic appendicular skeleton, post-axial hexadactyly of the right hand and the left foot, syndactyly of bilateral 2nd-3rd toes and left 5th-6th toes, right talipes varus and left talipes valgus, and fused L5-S1 vertebrae. Congenital heart disease consisted of hypoplastic left heart, coronary sinus agenesis, ostium secundum and ostium primum defects, and a thickened septum primum. The lungs were hypolobated and the kidneys manifested oligopapillary hypoplasia. Total colonic hirschsprung disease was noted microscopically. Analysis of liver tissue taken at postmortem examination revealed the ratio of 7-dehydrocholesterol and cholesterol to be 143 (expected, 0.28 /- 0.28). Although initially described as a distinct syndrome, RMCAS was merged with the severe form of SLOS, because of significantly overlapping features [Online Mendelian Inheritance in Man (OMIM) #268670]. The biochemical data showing an excess of 7-dehydrocholesterol and low cholesterol in the liver tissue of our case supports this viewpoint.- - - - - - - - - - ranking = 0.22645688793057keywords = palate (Clic here for more details about this article) |
6/44. Weissenbacher-Zweymuller syndrome: a distinct autosomal recessive skeletal dysplasia.The Weissenbacher-Zweymuller syndrome (WZS) is defined as congenital neonatal rhizomelic dwarfism with metaphyseal widening of the long bones and vertebral coronal clefts. Catch-up growth after 2-3 years is one of the striking manifestations. It is generally thought that WZS is a neonatal expression of the Stickler syndrome, even though in the latter, myopia, retinal detachment and a progressive metaphyseal dysplasia are characteristics that are not found in WZS. A critical analysis of all published patients with WZS in addition to 5 patients in 3 new families, shows that the WZS is a distinct syndrome of delayed skeletal maturation, different from the Stickler syndrome, and inherited as an autosomal recessive trait. The recognition of its unique characteristics has important implications in genetic counseling.- - - - - - - - - - ranking = 0.2keywords = cleft (Clic here for more details about this article) |
7/44. Atelosteogenesis type 3: the first patient in japan and a survivor for more than 1 year.We report the first patient of atelosteogenesis type 3 (AO3) in japan. The patient had multiple craniofacial abnormalities at birth, including ocular hypertelorism, a flat nasal bridge, micrognathia and a cleft palate. There was rhizomelic shortness of the limbs and a club-foot. The infant had short broad thumbs in the hands similar to those observed in the feet. There were no chromosomal abnormalities. Radiological examination demonstrated striking hypoplasia of the humerus with proximal rounding and distal tapering giving a 'drumstick' appearance, 'S'-shape configuration of the cervical spine, scoliosis and coronal cleft in the thoracolumbar vertebral bodies. The infant experienced recurrent apnea and persistent severe tracheomalacia, which necessitated tracheostomy at 5 months of age. Despite his multiple skeletal deformities and respiratory problems, this patient survived more than 1 year with motoneuronal developmental delay.- - - - - - - - - - ranking = 3.0575538898534keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
8/44. A case of cleft lip and palate associated with Seckel syndrome.OBJECTIVE: We report an unusual association of complete cleft of the primary and secondary palate with Seckel syndrome. Seckel syndrome is a very rare syndrome, with only 60 reported cases in the medical literature. It is an autosomal recessive disorder characterized by birdlike face, intrauterine growth retardation, dwarfism, and microcephaly. This young child of 5 years had a successful cleft lip repair under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed.- - - - - - - - - - ranking = 2.3322844396529keywords = palate, cleft (Clic here for more details about this article) |
9/44. Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance.In 1985, Frydman et al. [1985: Clin Genet 27:414-419] described a syndrome characterized by growth failure, microcephaly, persistent hyperplastic primary vitreous (PHPV) with microphthalmia, cleft palate, connective tissue abnormality, mental retardation, and spastic quadriplegia. The syndrome was termed as oculo-palato-cerebral dwarfism. The first patients described were offsprings of a consanguineous couple of Moroccan Jewish descent, suggesting autosomal recessive inheritance. An additional case was reported by Pellegrino et al. [2001: Am J Med Genet 99:200-203] in 2001. The clinical features were milder than the original cases, and there was no consanguinity. We report a third patient with oculo-palato-cerebral syndrome, supporting autosomal recessive inheritance, and a detailed comparison with the previous cases. This article contains supplementary material, which may be viewed at the American Journal of Medical genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html.- - - - - - - - - - ranking = 2.8575538898534keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
10/44. Clinical variability in KBG syndrome: report of three unrelated families.The KBG syndrome is characterized by short stature, macrodontia, a specific combination of minor anomalies, developmental delay, and/or mental retardation. We reported on four patients from three unrelated families. The most frequent clinical findings were: atypical face, long/flat philtrum, thin upper lip, macrodontia, dental malposition, enamel hypoplasia, and cleft teeth. Skeletal anomalies such as cervical ribs and vertebral abnormalities were also noted. hand anomalies were observed in three patients. Mental retardation and developmental delay were present in three of the four patients. There is wide clinical variability in the expression of this syndrome. The males are usually more severely affected then the females, suggesting possible X-linked inheritance in some cases.- - - - - - - - - - ranking = 0.2keywords = cleft (Clic here for more details about this article) |
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