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Abstract Cleft lip and palate are the most common congenital anomalies. Its association with hematological disorders is rarely reported. Cyclic neutropenia is a rare blood disorder that may occur spontaneously or has a genetic predisposition. Periodicity / recurrence of cyclic neutropenia has a cyclical pattern reoccurring in multiples of seven ...

Neural tube closure is a complex spatio-temporal process. Multiple neural tube defects (NTDs) in a single patient are extremely rare. Only a few cases of multiple NTDs have been reported in the world literature, including less than 20 cases of double NTDs and 3 cases of triple NTDs. We report ...

case report and review of the literature. to report on a patient presenting with anteroposterior defects of the arch of the atlas with a rare type of posterior arch defect. This report includes a literature review of the hypothesis for the development of this anomaly. congenital bony defects of the ...

Abstract Objective: To study the relationship of cleft severity and maxillary growth in patients with unilateral cleft lip and palate. Design: A systematic literature review. Methods: A literature survey from the PubMed database from January 1966 to December 2008 used the Medical Subject Headings terms 'facial growth," "unilateral cleft lip ...

Abstract Abstract Diamond Blackfan anaemia is associated with a variety of multiple congenital anomalies. The authors present a case of cleft palate occurring as the only anomaly in a child with Diamond Blackfan anaemia. Isolated cleft palate in association with Diamond Blackfan anaemia has not been previously reported in English ...

To describe a patient with Tessier cleft number 5 and 9 and review the literature on the ocular impairment and management of this extremely rare anomaly. Interventional case report and literature review. The literature review showed that the present patient is the second case with clefts 5/9. The ophthalmic consequences ...

A cleft sternum is a rare congenital anomaly often diagnosed as asymptomatic at birth. Clinical outcome may be unfavourable when an associated anomaly, particularly, an intra cardiac anomaly coexists with the defect. Primary repair should be employed in the neonatal period because the flexibility of the chest wall is maximal ...

Cleft palate with oral synechia is a rare congenital deformity that is represented in the literature by only a handful of cases. Midline synechia is less common than lateral. Failure to recognize and appropriately treat this condition has serious implications for neonatal airway management and feeding. We present a case ...

Conjoined twins or Siamese twins are identical twins whose bodies are joined in the uterus. Craniopagus is a condition in which the heads of the two twins are joined. Craniopagus parasiticus is a rare condition in which one of the twins is rudimentary in form and parasitic on the other. ...

BACKGROUND: Tongue biting in infants has a variety of aetiological factors and is a distressing problem. CASE REPORT: 10 month-old twin boys presented with severe ulceration of the tongue caused by self-mutilation and a maternal family history of this condition. TREATMENT: Thermoplastic splints were used to protect the tongue and ...

Abstract Facial clefts are rare congenital malformations. In the literature these are sometimes reported in combination with limb malformations, especially ring constrictions. This article describes three children with facial clefts and limb ring constrictions with various expressions. The first case has a lateral cleft with associated limb malformations. This combination ...

OBJECTIVE: We present 2 cases of spontaneous septostomy in dichorionic diamniotic twins and review the literature regarding the incidence, etiology, and complications of this condition. METHODS: The following key words were used in the literature search: "rupture dividing membrane twin," "disruption dividing membrane twin," "pseudomonoamniotic twin," "spontaneous septostomy twin," "interfetal ...

We report identical twins with Zenker's diverticulum. Case report and literature review. Geographical and racial variation in occurrence, and rare familial cases, suggest that inherited factors play a role in the pathogenesis of Zenker's diverticulum. The identical twins reported here provide further evidence supporting a genetic predisposition.

Fetus in fetu is an extremely rare condition wherein a malformed fetus is found in the abdomen of its twin. This entity is differentiated from teratoma by its embryological origin, its unusual location in the retroperitoneal space, and the presence of vertebral organization with limb buds and well-developed organ systems. ...

This case reports 4-year-old monozygotic twins incompletely concordant for simple congenital ptosis. Pedigree analysis demonstrates 4 generations of autosomal dominant transmission. The case and pedigree are reviewed in light of a number of recent advances in the understanding of genetic influences on simple congenital ptosis.

Unilateral primary lip/nose repair, closed approach using the Dallas protocol presents step-by-step technique with 10 completed cases. Adjustments and corrections frequently used in the lip/nose repair are presented. A discussion of various techniques used today with their advantages and disadvantages is reviewed. Ten completed cases are presented with their long-term ...

OBJECTIVE: To report two cases of successful monozygotic twin pregnancies in women undergoing infertility treatment and to review possible etiologic factors. DESIGN: Case report and review of the literature. SETTING: University of Toronto-affiliated infertility clinic. PATIENT(S): A 43-year-old woman and a 44-year-old woman with history of secondary infertility. INTERVENTION(S): In ...

The development of an intracranial aneurysm (IA) is a multifactorial process, involving genetic and environmental factors. The presence of IA or aneurysmal subarachnoid hemorrhage (aSAH) in twins is particularly interesting, since both genetic and environmental factors can be studied. It also raises the question of whether, when one twin is ...

BACKGROUND: The First Nations (Amerindian) population of British Columbia, Canada, has the highest reported birth prevalence in the world of cleft lip with or without cleft palate (CL/P) at nearly 3 per 1000 births. In addition, a substantial proportion of cleft palate only (CPO) cases in this population has been ...

Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis of the corpus callosum, polysyndactyly, polydactyly, and mental retardation. Limited information concerning the dental development and treatment has ...

OBJECTIVES: To report two cases of cleft palate lateral synechia (CPLS) syndrome in a single family and describe surgical closure using the synechia. STUDY DESIGN: Case report and literature review. METHODS: A case report is presented with a review of the literature of cleft palate in conjunction with lateral synechia. ...

Fourth branchial cleft anomalies are rare congenital disorders of the neck. We describe a case involving a unique presentation of this entity as well as a review of the literature concerning its management.

Conjoined twins are uncommon and refer to monozygotic, monoamniotic and monochorionic twins with varying degree and sites of fusion between the twins. In this report, we illustrate a case of thoracopagus twins highlighting the prenatal sonographic and magnetic resonance imaging appearance. Emphasis is laid on the role of appropriate imaging ...

Oral focal mucinosis (OFM) is a rare, asymptomatic, benign lesion of unknown etiology that usually involves the mandibular gingiva. This article reports on seven patients, six of whom had lesions that involved the gingiva and one that involved the palate. All cases demonstrated the classic lobular, myxomatous mesenchymal tissue with ...

This article provides some additions and corrections on a recently published case report concerning a pair of di-symmetrical cephalopagus conjoined twins. Eight different types of conjoined twins can be distinguished; one is cephalopagus, which is fourth in rarity of occurrence. Between 17 and 24% of cephalopagus is of the male ...

In this review, evidence is presented to indicate that hemodynamically significant (right ventricular volume overload) atrial septal defects (ASDs) in adults should be transcatheter occluded, irrespective of symptomatology. While surgical closure is safe and effective, device closure carries less morbidity. Several devices have been investigated over the last few decades, ...

Precalcaneal congenital fibrolipomatous hamartoma (PCFH) is a condition that is seldom reported in the paediatric literature and rarely in the dermatological literature. It has other disparate and confusing names and as histology is rarely obtained, the condition may be under-reported. We describe this disorder in the male twin of a ...

BACKGROUND: Renal tubular dysgenesis is a rare lethal kidney abnormality clinically manifested by olighydramnios, anuria and respiratory distress. Most of the information on this entity is provided by case reports and short series. OBJECTIVES: To evaluate the incidence and comparative frequency of clinical manifestations in different etiologic-pathogenic variants of RTD ...

To carry out a systematic review of the birth prevalence of cleft lip with or without cleft palate (CLP) and cleft palate (CP) in Africa based on available published data. Using the Cochrane search strategy and the following keywords words "cleft palate", "prevalence", "incidence", "cleft lip" and "Africa" to screen ...

Dog bites to the face are common in children and often involve amputation of the lip or cheek resulting in a devastating facial injury. When feasible, replantation of the amputated lip segment provides the optimal cosmetic outcome. Here, we present the case of a partial upper lip replantation with delayed ...

A case of onychomadesis in one of twins with onset in the neonatal period is reported. We hypothesize that the nail deformities were induced by the stress of a breech presentation during preterm labor and that candidiasis limited to the bands of onychomadesis exaggerated the appearance of the nail deformity.

Tetra-amelia is a rare malformation that may be associated with other anomalies and is usually inherited in an autosomal recessive pattern. We describe a fetus, born to a nonconsanguineous couple, with tetra-amelia, bilateral cleft lip and palate and bilateral lung agenesis, without other anomalies. Karyotype was normal (46,XX) and premature ...

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 ...

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 ...

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 ...

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 ...

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, ...

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 ...

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 ...

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 ...

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 ...

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. ...

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.

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 ...

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 ...

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 ...

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 ...

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 ...

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. ...