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Reutter Heiko - - 2009
In the past, several midline defects have been associated with Down syndrome (DS) on a regular basis, e.g. heart defects, cleft lip and palate, neural tube defects, omphalocele and anal atresia. The exstrophy-epispadias complex (EEC) represents a rare midline defect, rarely described in association with DS. Here, we report on ...
Portier-Marret Nathalie - - 2008
The oro-ocular cleft no. 4 according to the Tessier classification is one of the rarest facial cleft, and to this day, few cases have been reported in the literature. We describe the case of a 9-month-old girl with a complete bilateral facial cleft. On the right cornea protruded a hard ...
Kenniston Julia A - - 2008
The etiology of osteochondritis dissecans (OCD) of the capitellum is unknown but has generally been attributed to repetitive microtrauma or ischemia. We present a case report of fraternal twins with OCD lesions in their nondominant arms without a known history of repetitive injury to the elbow. This report provides evidence ...
Mills James L - - 2008
BACKGROUND: Cleft lip with or without cleft palate (CLP) and cleft palate only (CPO) have an inherited component and, many studies suggest, a relationship with folate. Attempts to find folate-related genes associated with clefts have, however, often been inconclusive. This study examined four SNPs related to folate metabolism (MTHFR 677 ...
Tan K B L - - 2008
INTRODUCTION: Cleft deformities, though non-lethal, receive much attention from parents and doctors alike because of their obvious physical disfigurement, social stigma and associated feeding and vocal articulation problems. There is also an association with chromosomal defects for certain cleft deformities. The aim of this study is to examine the incidence, ...
Nathani Neeraj K - - 2008
Congenital macrostomia is a lateral orofacial cleft between the maxillary and mandibular components of the first branchial arch. Bilateral macrostomia is a rare entity. To date, 17 cases have been reported in the literature, with more than 50% isolated. We present a case of bilateral transverse facial cleft (macrostomia) in ...
Potoupnis Michael E - - 2008
STUDY DESIGN: The report of 2 cases and review of the literature. OBJECTIVE: To report the cases of a pair of female monozygotic (high-class athletes) twins discordant for adolescent idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: The relation between scoliosis and exercising is rather unclear. The latter has often been considered ...
Hovorakova M - - 2008
Conjoined twins are rare variants of monozygotic twins, which result from an incomplete late division of the embryonic disk. Here we report the rarest case of conjoined twins - the male cephalothoracopagus janiceps disymmetros - born in prenatal week 30, from the archive of the Department of Teratology of the ...
Al-Ani Sami A - - 2008
A unilateral upper lateral orbital cleft, fitting the description of the extremely rare Tessier cleft number 9 is reported. The management and surgery of this patient are discussed, and the relevant literature is reviewed. The usefulness of three-dimensional computed tomography reconstructions and plastic models in planning the surgery is discussed.
Yamanishi Tadashi - - 2008
The authors report the case of a Japanese girl with interstitial deletion of chromosome 12q15-q21.2 who had multiple congenital anomalies including bilateral cleft lip and palate (BCLP) with intrauterine onset of growth retardation and severe psychomotor developmental delay. Only two other patients with a similar deletion have been reported previously. ...
da Silva Dalben Gisele - - 2008
The observation of mirror-image clefts in conjoined twins may suggest an influence from environmental factors (e.g., poor blood supply) on the appearance of clefts. The present paper reports on a pair of male thoracopagus twins born to a 20-year-old woman. The twins were stillborn. Both twins exhibited complete unilateral cleft ...
Yiltok, S J; ;
Macrostomia is a rare congenital anomaly of the face, especially the isolated type. This report aims to document our experience inmanaging this rare pathology. All consecutive cases of children managed for isolated bilateral macrostomia at the Jos UniversityTeachingHospitalwere retrospectively reviewed. Five patients, aged between 10 weeks and 30 months were ...
Segal Nancy L - - 2008
A case of opposite-sex co-twins who married one another was recently reported. This case raises questions concerning the bases of mate attraction and adopted children's right to know their biological origins. This overview is followed by summaries of recent studies of familial twinning, food neophobia and monozygotic twins discordant for ...
Bonifaz A - - 2008
OBJECTIVE: To present a clinical report of palatal zygomycosis, its epidemiological, mycological features, and our treatment experience. DESIGN: Retrospective report. SUBJECTS AND METHODS: This is a 25-year long retrospective trial of clinically and mycologically proven cases of zygomycosis. Some patients underwent a biopsy of the palatal lesion and autopsy. This ...
Dhir Jasmeet Singh - - 2009
BACKGROUND: The occurrence of similar pathology in identical twins is well recognized. Spinal pathologies have been suggested to have a genetic predisposition. Degenerative lumbar spinal disease is one of them, with low back pain as one of its common presentations. CASE DESCRIPTION: We describe a case of monozygotic twins presenting ...
Souto Luís Ricardo Martinhão - - 2008
BACKGROUND: Van der Woude syndrome (VWS; OMIM 119300) is an autosomal dominant developmental malformation presenting with bilateral lower lip pits related to cleft lip, cleft palate, and other malformations in about half the patients. These congenital lip pits appear clinically as a defect in the vermilion border of the lip. ...
Sharma A - - 2008
Concomitant hypodontia and hyperdontia is a rare condition of unknown etiology. One such case of occurring in identical twins in mixed dentition is presented and discussed. A sibling, especially a twin of an affected patient, should be suspected of having a similar problem, even if he or she is asymptomatic. ...
Kaspiris Angelos - - 2008
The exact etiology of congenital scoliosis remains unknown as yet. It seems that its development may be influenced by both genetic predisposition and environmental factors, at varying degrees. International bibliography features few cases of monozygotic twins with congenital scoliosis. The aim of this study is to report a case in ...
Kompanje Erwin J O - - 2008
Case reports of conjoined twins ("Siamese twins") in wild mammals are scarce. Most published reports of conjoined twins in mammals concern cases in man and domestic mammals. This article describes a case of cephalopagus conjoined twins in a leopard cat (Prionailurus bengalensis) collected on the island of Sumatra, Indonesia, in ...
Abdel-Salam G M H - - 2008
We report a rare combination of anomalies in an Egyptian girl with Kabuki syndrome (KS). The 26-month-old girl had imperforate anus with rectovestibular fistula, diaphragmatic defect, congenital heart defects, cleft palate, lower lip pits, hypopigmentation, seizures, hypogammaglobulinemia A, hyperlaxity of joints and premature breast development. This unique combination of anomalies, ...
Rohilla Minakshi - - 2008
Acardiac twinning, a rare congenital anomaly of monozygotic twin pregnancy, often results from abnormal placental vascular anastomoses. This leads to twin reversal arterial perfusion with complex pathophysiology. Current information on early recognition and treatment for salvation of the normal twin is based on individual case reports in the literature. We ...
Orioli Iêda M - - 2007
ECLAMC: Latin American Study of Congenital Malformations examined 4,157,224 births (1967-2000), detecting 370 newborns with suspected holoprosencephaly (HPE): 182 (49.2%) had only craniofacial defects; 99 (26.8%) had defects in other systems; (15.1%) had chromosomal anomalies; 5 (1.4%) had recognized syndromes; and 28 (7.6%) had isolated median cleft lip. The latter ...
Levin J H - - 2007
The acronym PHACES is used to describe the association of posterior fossa malformations, hemangiomas, arterial anomalies (cardiovascular or cerebrovascular), coarctation of the aorta and cardiac defects, eye abnormalities, and sternal or ventral defects. We report a female patient with an uncommon variant of this neurocutaneous disorder who manifested a sternal ...
Rodríguez José I - - 2008
Two recent reports on recurrent cases of umbilical cord stricture (UCS) have opened the debate on the possibility of a genetic basis for this anomaly, traditionally considered to be sporadic. We present a series of 130 cases of UCS located at the fetal insertion, diagnosed among 2067 fetal and infantile ...
Spector Jason A - - 2007
Although the condition is rare, some children are born with cervical clefts or masses that require repair during infancy. The scarring in the submental region can tether the developing mandible at the menton, producing a developmental microgenia or "tethered chin." A retrospective review of the senior author's (B.M.Z.) patient records ...
Hunter Nina L - - 2007
Both hindbrain roof plate epithelium (hRPe) and hindbrain choroid plexus epithelium (hCPe) produce morphogens and growth factors essential for proper hindbrain development. Despite their importance, little is known about how these essential structures develop. Recent genetic fate maps indicate that hRPe and hCPe descend from the same pool of dorsal ...
de Oliveira Ricardo Santos - - 2007
BACKGROUND: Major skull defects, especially in the anterior region, can present as a most disturbing deformity. Reconstructive cranioplasty can restore cerebral protection and improve craniofacial aesthetics. Complex and large skull defects in children often present reconstructive difficulties. MATERIALS AND METHODS: In this paper, an unusual case of a very large ...
Araujo Júnior Edward - - 2007
Schizencephaly is a rare anomaly of neuronal migration characterized by the presence of brain clefts that communicate with the lateral ventricles. Type I is characterized by clefts with fused lips or margins, not communicating with the subarachnoid space. Type II is characterized by longer clefts that communicate with the subarachnoid ...
Nottidge H O - - 2007
This report describes a case of craniothoracopagus (moncephalus thoracopagus tetrabrachius) twin puppies in Ibadan, Nigeria. The conjoined twins were given birth to by a 7-year-old bitch that was usually allowed to stray away from home in search of food. Deformities of the cardiovascular, digestive musculoskeletal, respiratory and urinary systems are ...
Abdel-Aziz Mosaad - - 2007
OBJECTIVE: (a) Palatal repair is the standard surgical method for correction of velopharyngeal incompetence due to submucous cleft, but some patients may need further narrowing of velopharynx by pharyngeal flap. (b) The purpose of this study is to evaluate the efficacy of a pharyngeal flap as a single surgical procedure ...
Suliman Mohamad Taifour - - 2007
Double lip is a rare deformity that may cause the affected person severe psychological distress because of its disfiguring effect on the smile. Most cases of double lip were reported from Europe and North America. We present five patients with this deformity from an African country and review the literature.
Morritt Daniel G - - 2007
We report the unusual case of a baby with a paramedian cleft of the lower lip. In 1976, Tessier described a classification of craniofacial clefts based on personal observations, and he predicted the possibility of further clefts being discovered by labeling midline mandibular clefts "30." This case of a paramedian ...
Calzolari Elisa - - 2007
We studied 5,449 cases of cleft lip (CL) with or without cleft palate (CL/P) identified between 1980 and 2000 from the EUROCAT network of 23 registers (nearly 6 million births) in 14 European countries. We investigated specific types of defects associated with clefts. Among CL/P cases (prevalence = 9.1 per ...
Srivastava Pankaj, Sahu Manoranjan
Abdominal cocoon (AC) is a rare disease entity most often found in adolescent girls from tropical and subtropical countries. The etiology is largely unknown. We report herein our experience of two cases of AC detected first time in identical female twins in the literature so far. One presented with acute ...
Carmo Kathryn Browning - - 2007
Congenital candidiasis is rare and often benign. We report the case of twins born at 32 weeks' gestation with different manifestations of congenital candidiasis. One twin was born well though neutropenic, and died from overwhelming sepsis with septic shock at 22 h. The other twin presented with a delayed onset ...
Elziere Maya - - 2007
Palatal myoclonus is an uncommon, rhythmic, "shock-like" involuntary movement of the muscles of the soft palate, throat, and other structures derived from the branchial arcs. Objective tinnitus is frequently neglected in review articles about childhood tinnitus. Our aim was to present the case of a 7-year-old girl with bilateral objective ...
Razeghinejad Mohammad Reza - - 2006
Morning glory disc anomaly (MGDA) is a congenital malformation of the optic disc that has been reported in association with midline craniofacial defects such as basal encephalocele, hypertelorism, cleft lip and palate, and agenesis of the corpus callosum. We describe a 44 year-old woman with MGDA and Chiari type capital ...
Cannistrà Claudio - - 2006
Orbitofacial clefts are caused by a congenital absence of midfacial tissues between the eye and the upper lip just medial to the corner of the mouth. As a whole, facial clefts occur with an incidence of 1.43 to 4.85 per 100,000 births. The exact incidence of these unusual orbital facial ...
Suryadevara Amar C - - 2007
A bifid uvula, midline diastasis of the palatal muscles, and notching of the posterior hard palate have classically formed a triad diagnosing submucosal clefts. The uvula has thus served as a tool for clinicians to detect the earliest signs of clefting. In this case report, we discuss how mucosal lining ...
Su T - - 2006
This study evaluated the survival rates of three types of platysma myocutaneous flap: transverse flap, vertical flap that preserved the facial artery and vein and vertical flap that sacrificed the facial artery and vein. Modified radical or supraomohyoid neck dissection was also performed in all patients. Out of 54 patients, ...
Shi Cheng-Ren - - 2006
Conjoined twins are very rare congenital malformation. The aim of this study was to summarize our experiences of surgical separation on seven sets of conjoined twins, and improve the treatment of conjoined twins in the future. A retrospective review of surgical separation included data of prenatal diagnosis, associated malformation, timing ...
Gundlach Karsten K H - - 2006
BACKGROUND: Most textbooks present data on the various frequencies of clefts in different human "races". This was studied in more detail. MATERIAL AND METHODS: In a major literature study the frequencies of clefting reported in more than 100 publications were studied and the following data was collected: Incidences of clefts ...
Macias Emilio - - 2006
We would like to present a case of the rare genetic skin disorder catalogued as AEC syndrome. This rare disorder was described in 1976 by Hay and Wells in seven individuals from four families, and it entails a complex polymalformative syndrome with an autosomal-dominant inheritance pattern and variable penetration. Descriptive ...
Liao Yu-Fang - - 2006
OBJECTIVE: To evaluate the effect of timing of hard palate repair on facial growth in patients with cleft lip and palate, with special reference to cranial base, maxilla, mandible, jaw relation, and incisor relation. DESIGN: A systematic review. METHODS: The search strategy was based on the key words "facial growth," ...
Phillips Tonya M - - 2006
Monozygotic twins with fumarate hydratase deficiency presenting with profound hypotonia and developmental delay are reported. This rare organic aciduria has been previously described in random case reports, although, to our knowledge, these are the first reported monozygotic twins and gene testing revealed a novel mutation in both. During their course, ...
Lee W Anthony - - 2006
We report a case of a late type III endoleak from a hole in the expanded polytetrafluoroethylene graft material of an Excluder bifurcated stent-graft approximately 12 months after implantation. The endoleak was successfully repaired by relining the defect site with an Excluder iliac limb. To our knowledge, this is the ...
Lees Melissa M - - 2006
A family with midline nasal dermoids in four members over five generations is described. Two of these individuals also had a midline cleft lip. The pattern of inheritance appears to be autosomal dominant with variable expression. To our knowledge, no familial cases of midline clefting with nasal dermoids have previously ...
Baek Chung-Hwan - - 2006
BACKGROUND: A lower lip-splitting incision has traditionally been performed with different types of mandibulotomy approaches for obtaining wide access to oral and oropharyngeal cancers. However, lip splitting can be associated with unfavorable aesthetic results. We describe our new modification of a traditional mandibulotomy approach without lip splitting to avoid these ...
Chen Hui-Yu - - 2006
OBJECTIVE: To report a case of monozygotic twin sisters who had discordant gonadal dysgenesis although each had a normal 46,XY karyotype. DESIGN: Case report. SETTING: University tertiary hospital. PATIENT(S): Seventeen-year-old twin sisters, one with gonadal agenesis and the other with pure gonadal dysgenesis followed by dysgerminoma. INTERVENTION(S): Blood samples were ...
Sharkey L - - 2006
Selective mutism is a rare social anxiety disorder characterized by a total lack of speech in certain specific situations despite the ability to speak in others. Both genetic and psychosocial factors are thought to be involved in its presentation, persistence, and response to treatment. This case report describes a case ...
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