1/126. Oral-facial-digital syndrome with hypothalamic hamartoma, postaxial ray hypoplasia of the limbs, and vagino-cystic communication: a new variant?We report on a 20-month-old girl with hypothalamic hamartoma, left cerebral atrophy, tongue nodules, oral frenula, micrognathia, hypoplasia of the left ulna, the fibulae, and right tibia, polysyndactyly of the hands and feet, vagino-cystic drainage with hydrometrocolpos, megaloureters, and hydronephrosis, agenesis of urethra, complex partial seizures, and central precocious puberty. The differential diagnosis is discussed. We conclude that the malformation complex in this girl is an oral-facial-digital syndrome, but is different from any of the 11 known subtypes.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
2/126. Linear epidermal nevus and nevus sebaceus syndromes: a clinicopathologic study of 3 patients.BACKGROUND: Linear epidermal nevus syndrome and linear sebaceus nevus syndrome are rare neurocutaneous syndromes characterized by epidermal nevi, epilepsy, and mental retardation. Pathologic descriptions of the central nervous system findings in such patients are rare. DESIGN: We examined the clinicopathologic features of 2 patients with linear epidermal nevus syndrome and 1 with nevus sebaceus syndrome who underwent surgical resections for chronic epilepsy in a tertiary referral center with a high volume of epilepsy surgery. RESULTS: patients included 3 females, aged 11 months (patient 1), 8 years (patient 2), and 2 1/2 years (patient 3) at the time of surgery. The duration of seizures prior to surgery was 11 months, 6 years, and 28 months, respectively. Two patients had epidermal nevi involving the head region (patients 1 and 3), and 1 had a nevus sebaceus of Jadassohn (patient 2); patient 2 had a choristoma, and patient 3 had a dermoid cyst in the eye region. Patient 1 demonstrated hemimegalencephaly radiographically. Histologic examination of resected cortical tissue in patients 1 and 2 demonstrated severe diffuse cortical dysplasia characterized by a disorganized cortical architectural pattern, a haphazard orientation of cortical neurons, and increased molecular layer neurons. Gyral fusion was seen in patient 1. Pial glioneuronal hamartomas were observed in patient 1. Prominent cortical astrocytosis was seen in patients 1 and 2, and foci of microcalcification were evident in patient 1. Cortical dysplasia was milder in patient 3 and consisted of an increased number of molecular layer neurons. Neuronal heterotopia was observed in all 3 patients. CONCLUSION: The spectrum of neuronal migration abnormalities in the setting of these syndromes may be variable in terms of its histologic phenotypic manifestations.- - - - - - - - - - ranking = 0.11215151592557keywords = nervous system (Clic here for more details about this article) |
3/126. A case of hypothalamic hamartoma associated with arachnoid cyst.A 14-year-old girl presented with seizures. Radiological examinations revealed an arachnoid cyst in left middle fossa and a cystic mass in the interpeduncular cistern. The cyst was opened and the wall of the cyst and a mass were biopsied. The histological findings were characteristic of an arachnoid cyst and hamartoma, respectively. A hypothalamic hamartoma associated with an arachnoid cyst is comparatively rare; however, such a case may help clarify the genesis of this malformation.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
4/126. oral manifestations of Schimmelpenning syndrome: case report and review of literature.Schimmelpenning syndrome (SS) is characterised by specific skin manifestations, skeletal defects, and central nervous system abnormalities. Here, the SS is briefly reviewed, and the oral and dental manifestations are described in a patient whose medical findings were previously published and included severe hypophosphatemic rickets. Significant oral and dental features included papillomatous lesions of the gingiva, hemihyperplasia (hemihypertrophy) of the tongue, bone cysts, aplasia of teeth, enlarged pulp chambers, hypoplastic or absent enamel, and an odontodysplasia-like permanent tooth.- - - - - - - - - - ranking = 0.11215151592557keywords = nervous system (Clic here for more details about this article) |
5/126. Otolaryngologic aspects of oral-facial-digital syndrome.The oral-facial-digital (OFD) syndromes are a heterogeneous group of hereditary disorders which have in common the findings of oral abnormalities, facial dysmorphism, and hand/feet malformations. We report the case history of an 18-month-old male with cerebellar cysts, hydrocephalus, tongue hamartomas, and polydactyly. These findings are most consistent with OFD VI. The clinical features of eight different types of OFD are discussed, with particular attention to the characteristics of the most interest to the otolaryngologist.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
6/126. Segmental neurofibromatosis in association with nevus sebaceus of Jadassohn.We describe an unusual case involving the simultaneous occurrence of segmental neurofibromatosis (Type V NF) in a patient with a large nevus sebaceus of Jadassohn in the same physical distribution. Causative mechanisms of development of these 2 genetic disorders have not been definitively linked. Factors producing these diseases probably involve similar tissues at the same point in development because both have been reported in association with central nervous system anomalies and have been classified among the neurocutaneous syndromes. This is a case of a nevus sebaceus occurring in association with and in the same physical distribution as segmental NF. These disorders most likely represent a spectrum of disease within the phakomatoses.- - - - - - - - - - ranking = 0.11215151592557keywords = nervous system (Clic here for more details about this article) |
7/126. Cavernous haemangioma of the retina and optic disc. A report of three cases and a review of the literature.We report characteristics of three cases of cavernous haemangioma of the retina, bringing to 37 the number now reported in the available literature. This rare, benign, congenital malformation is non-progressive, usually unilateral, somewhat more frequent in women, and rarely a source of intraocular haemorrhage. The fluorescein angiographic features include a normal arterial and venous supply, extraordinarily slowed venous drainage, no arterio-venous shunting, no disturbances of vascular permeability, and no secondary retinal exudation. Almost always, isolated clusters of vascular globules with plasma/erythrocyte sedimentation surround the main body of the malformation. These findings differentiate the anomaly from other retinal vascular diseases. Therapeutic intervention is seldom necessary.- - - - - - - - - - ranking = 2keywords = malformation (Clic here for more details about this article) |
8/126. Inner ear malformations and hearing loss in linear nevus sebaceous syndrome.OBJECTIVE: Linear nevus sebaceous syndrome (LNSS) is a rare disorder comprising of nevus sebaceous, seizures, and mental retardation. While extensive literature describe the dermatologic, neurologic, as well as ophthalmologic manifestations of this LNSS, otologic problems have not been previously described. The objective of this report is to describe the otologic manifestation of a patient with LNSS. methods: A child with LNSS was referred to the Otologic clinic for evaluation of hearing loss. Pertinent findings on history, physical findings, audiometric testing, and imaging studies are discussed. RESULTS: Audiometric testing showed bilateral conductive hearing loss. Computerized tomography of the temporal bone demonstrated widened internal auditory canals and dysplastic lateral semicircular canals. CONCLUSION: LNSS can be associated with hearing impairment and inner ear malformations. The evaluation of a child with LNSS should include otologic and audiologic testing.- - - - - - - - - - ranking = 5keywords = malformation (Clic here for more details about this article) |
9/126. Cloning and characterization of the breakpoint regions of a chromosome 11;18 translocation in a patient with hamartoma of the retinal pigment epithelium.Mutations of various tumor suppressor genes, e.g., PTEN, TSC1, and TSC2, are known to be responsible for different inherited diseases presenting with multiple hamartomas, a benign tumor resembling neoplasia that results from faulty organ development. Combined hamartoma of the retinal pigment epithelium (RPE) and retina is a rare, congenital, focal malformation of the fundus. So far, no disease gene has been associated with this disorder. By molecular analysis of an apparently balanced and reciprocal translocation between the short arms of chromosomes 11 and 18, t(11;18)(p13;p11.31), in a patient with hamartoma of the RPE and retina, we selected PAC clones crossing the breakpoints on both derivative chromosomes 11 and 18. For the overlapping chromosome 11 clone, two EST clusters were identified, suggesting the existence of at least two genes in the breakpoint region. We constructed a PAC contig and showed that at least three exons of a novel gene map to the breakpoint region on chromosome 18. Based on the results of FISH analysis with the PAC clones of this contig, we suggest the occurrence of a complex rearrangement.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
10/126. Long-term treatment with growth hormone improves final height in a patient with pallister-hall syndrome.pallister-hall syndrome is a disorder of development consisting of hypothalamic hamartoma, pituitary dysfunction, central polydactyly and visceral malformations. This disorder is inherited as an autosomal dominant trait and is caused by mutations of the GLI3 gene encoding a zinc finger transcription factor. We describe a case of pallister-hall syndrome with growth hormone neurosecretory dysfunction, successfully treated with growth hormone until attainment of final height. We conclude that children with pallister-hall syndrome and short stature be evaluated carefully for spontaneous somatotropic function and, if necessary, treated with growth hormone.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
| | Next -> |