Craniofacial clefts are certainly among the most challenging congenital malformations with respect to functional, aesthetic and psychosocial consequences. The aetiology is still under discussion, recent molecular genetic findings suggest defects in the ciliary function of neural crest cells during facial development. The severity of craniofacial clefting is known to be ...

Abstract Objective: Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a congenital anomaly characterized by ectodermal dysplasia, ectrodactyly, cleft lip and palate, and lacrimal duct anomalies. Because this syndrome is frequently accompanied by a congenital lack of teeth, narrow palate, and malocclusion, comprehensive orthodontic intervention is required. Design: To highlight the specific dental ...

The purpose of this report is to present Apert syndrome patient by highlighting craniofacial characteristics and orthodontic approach to treatment.The patient, a 16-day-old female and the second child of healthy parents, was admitted to our department with primary complaint of cleft palate. She had a cone-shaped calvarium, midface hypoplasia, syndactyly ...

Branchial cleft anomalies are congenital remnants of the embryologic branchial clefts persisting past the embryo stage. Most occur singly and sporadically, though syndromic associations are described. Multiple branchial cleft anomalies coincident in the same patient are exceptionally rare, and rarer still are peripheral dermal sinus tracts on the extremities, with ...

ABSTRACT: A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. The estimated annual incidence of LC is 1/10,000 to 1/20,000 live births, accounting for 0.2% to 1.5% of congenital ...

We report a family with a rare association of congenital bilateral cataract and cleft palate that has not to our knowledge been previously reported. The lineage has unveiled abnormalities over four generations affecting 21 people with congenital bilateral cataract, with or without cleft palate. The transmission seems autosomal dominant. Four ...

: To perform a systematic review of the literature regarding the occurrence of neurologic morbidity, neurologic impairment, or neurologic morbidity and impairment of patients treated with laser therapy for twin-twin transfusion syndrome. : The PubMed, MEDLINE, EMBASE databases and reference lists were searched up to December 2010 for studies describing ...

Abstract Background: Tessier 30 cleft is rare and sparsely reported in the literature. A unique case of an infant with a Tessier 30 cleft, bilateral cleft lip and palate, and other anomalies is presented. In addition to craniofacial, he had cardiac, gastrointestinal, and genitourinal anomalies. The constellation of these findings ...

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare condition belonging to the group of ectodermal dysplasias caused by TP63 mutations. Its clinical phenotype is similar to ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) and limb-mammary syndrome (LMS), and differs from these disorders mainly by the absence of cleft lip and/or palate. We report on a ...

Background:  The anatomical location of the third portion of the duodenum is between the superior mesenteric artery (SMA) and the abdominal aorta (AA). When the aorto-mesenteric angle (AMA) is small and the aorto-mesenteric distance (AMD) is short, the duodenum becomes tightly compressed between these two blood vessels. Severe compression can ...

We aimed to determine (1) the prevalence of premenstrual syndrome in a sample of twins and (2) the relative contribution of genes and environment in premenstrual syndrome. A group of 193 subjects inclusive of same gender twins (n = 176) and females from opposite sex twin sets (n = 17) ...

This report describes the case of a 13-year-old Indian boy with popliteal pterygium syndrome. The popliteal pterygium syndrome is an extremely rare hereditary disorder thought to occur with an incidence of approximately 1 in 300000 live births. It is a congenital malformation syndrome affecting the face, limbs, and genitalia with ...

We report a very rare case of anomaly in the maxillofacial region. This case is a patient with a cleft palate who had Simpson-Golabi-Behmel syndrome. This X-linked symptom was first described by Simpson et al in 1975 and is characterized by prenatal and postnatal overgrowth, as well as visceral and ...

Background and Objective : To date, there are no published studies from Saudi Arabia on the incidence or etiology of craniofacial anomalies. This study aimed to report the patterns of craniofacial anomalies in Saudi Arabia. Design and Setting : Hospital-based, descriptive study conducted during 2002 to 2009 in the Cleft ...

Abstract Objective: To improve neonatal outcome using ultrathin fetoscope for laser treatment of twin-to-twin transfusion syndrome. Methods: Retrospective cohort study of a series of 80 cases of twin-to-twin-transfusion syndrome prior to 26 weeks' gestation subjected to laser coagulation by means of a 1.0/1.2 mm fiber fetoscope with a sheath sectional area ...

Objective: We investigated persistent pulmonary hypertension of the newborn (PPHN) among monochorionic-diamniotic (MD) twins. Methods: A retrospective cohort study examined MD twins from 195 deliveries and 373 live-born neonates at our center. Results: PPHN occurred in three cases (3/373: 0.8%), all of which were recipients of twin-twin transfusion syndrome (TTTS), ...

Laser ablation of anastamoses is one method for treatment of twin-twin transfusion syndrome in monochorionic pregnancies. Sonographic mapping of the umbilical cord insertions is an important aspect of the preoperative workup before laser ablation. Proximate umbilical cord insertions can be potential contraindications to laser ablation. This series discusses 6 such ...

Abstract Four newborn boxer dogs with bilateral cleft lip and palate were examined in search of further abnormalities, but no other type of congenital defect was found. These data, along with the pedigree inspection regarding the clinical phenotype, led to the conclusion that the affected dogs had a non-syndromic monogenic ...

Twin-twin transfusion syndrome (TTTS) is a severe complication of monochorionic twin pregnancies associated with high perinatal mortality and morbidity rates. Management in TTTS is a major challenge for obstetricians and neonatologists. Twins which are often born prematurely and may suffer from typical conditions associated with prematurity. In addition, surviving twins ...

Our aim was to find out the prevalence of oral clefts in Madagascar, to compare it with elsewhere in the world, and to give the possible cause of the particular rate in the Vakinankaratra region where Antsirabe is situated. Data were collected from birth registers from 1998 to 2007 in ...

OBJECTIVE: Velo-cardio-facial syndrome (VCFS) is caused by a microdeletion of approximately 40 genes from one copy of chromosome 22. Expression of the syndrome is a variable combination of over 190 phenotypic characteristics. As of yet, little is known about how these phenotypes correlate with one another or whether there are ...

Aarskog-Scott syndrome is a rare X-linked recessive disorder with characteristic facial, skeletal, and genital abnormalities. We report on Aarskog-Scott syndrome in male dizygotic twins with an identical de novo mutation in FGD1 that resulted from germline mosaicism in the phenotypically normal mother. This is the first report of inheritance by ...

Abstract Fryns anophthalmia-plus syndrome (APS) is a very rare condition initially described by Fryns et al. 1995 in a pair of siblings of non-consanguineous parents. Since then only few cases have been reported, most of them in newborns and young children. Clinical presentation is variable including anophthalmia/microphthalmia, cleft lip/palate and ...

Orofacial clefts of the lip and/or palate comprise one of the most common craniofacial birth defects in humans. Though a majority of cleft lip and/or cleft palate (CL/P) occurs as isolated congenital anomalies, there exist a large number of Mendelian disorders in which orofacial clefting is part of the clinical ...

Monochorionic twins are subjected to specific complications which originate in either imbalance or abnormality of the single placenta serving two twins including twin-to-twin transfusion syndrome. The diagnosis is well established in overt clinical forms with the association of polyuric polyhydramnios and oliguric oligohydramnios. The best treatment of cases presenting before ...

Objective To define the intrinsic (hypoplasia) and extrinsic (deformational) contributions to congenital nasal deformities and the potential of a carrier state for orofacial clefting. Methods Retrospective case series. Results The factors affecting 4 congenital nasal deformities are postulated after contrasting the patient's characteristics. Conclusions The spectrum of congenital nasal deformities ...

The Ghent nosology is the gold standard in the diagnosis of Marfan syndrome. In Ghent nosology, clinical features are assessed within seven body systems. The diagnosis of Marfan syndrome requires both a major criterion in two systems and the involvement of a third system. The purpose of this study was ...

Sweet's syndrome is a neutrophilic dermatosis characterized by fever, an elevated neutrophil count, and painful erythematous cutaneous lesions. Histopathological analysis reveals a neutrophilic dermal infiltrate. Systemic corticosteroid therapy remains the mainstay of treatment. We report the case of a 66-year-old male patient who had a 5-year history of Sweet's syndrome ...

Kounis syndrome is coronary vasospasm because of mast cell degranulation in the context of an allergic reaction. The syndrome has known associations with several drugs used during anesthesia, including rocuronium and isoflurane. In this case report, we discuss a 2-year-old patient who developed signs and symptoms of an acute coronary ...

Graceway Pharmaceuticals, Bristol, Tennessee, provided the imiquimod cream used in this study.

Elongated styloid processes sometimes compress the cervical carotid artery, causing transient ischemic attacks. Most patients with Eagle syndrome who experience transient ischemic attacks have bilateral elongated styloid processes; therefore, it is necessary to determine which side is causing the Eagle syndrome to treat it. This is the first report of ...

PURPOSE:: To describe three unusual clinical cases of patients who were diagnosed with multiple evanescent white dot syndrome at the onset of their disease but lacked the characteristic white dots on clinical examination, autofluorescence, and angiographic testing at any time during their follow-up. METHODS:: Three eyes of three patients with ...

For 30 years, CO(2) gas has been used as a safe alternative to iodinated contrast agents for angiography in patients with renal insufficiency or allergy to iodine. CO(2) angiography is well tolerated when performed properly, and serious complications are rare. However, severe complications may occur if the physical properties of ...

A synthetic adrenocorticotropin (ACTH) analog has shown efficacy in Europe as primary and secondary therapy for nephrotic syndrome, but there is no published experience using the natural, highly purified ACTH gel formulation, available in the United States, for nephrotic syndrome. We therefore investigated the use of ACTH gel for nephrotic ...

The 22q11 Deletion Syndrome includes the overlapping phenotypes of DiGeorge/Velocardiofacial Syndromes, characterized by conotruncal heart defects, cleft palate, thymus, and parathyroid gland dysplasia. The majority (90%) of patients harbor detectable chr22q11.2 deletions, but a genetic etiology for the remainder of patients without a deletion can remain undefined despite major birth ...

This is a case report of a patient diagnosed at age 50 with supravalvular aortic stenosis secondary to Williams-Beuren Syndrome and successfully treated with aortic valve replacement and excision of supravalvular tissue.

Ectrodactyly, ectodermal dysplasia and cleft palate syndrome is a rare autosomal dominant multiple congenital anomaly syndrome with variable expressivity and reduced penetration. The cardinal features are cleft palate/lip, lobster hand deformity, sparse hypopigmented hair, dry scaly skin, and lacrimal and urogenital anomalies. A neonate presented to us with typical features, ...

A 17-year-old girl presented with a rare case of parasitic rachipagus conjoined twins associated with spina bifida, diplomyelia, scoliosis, tethered cord syndrome, and ventricular septal defect. Physical examination found a well developed breast and an apophysis on the back of the patient, and neuroimaging demonstrated scoliosis, spina bifida from T8 ...

Ectrodactyly, ectodermal dysplasia, clefting syndrome (EEC) is a rare autosomal dominant genodermatosis. We describe perioral lesions presented in a young boy with a history of EEC. While this is not the first mention of perioral lesions in EEC, they have been poorly characterized and are not defined as a common ...

Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities. It may present with life threatening respiratory distress in the neonate secondary to nasal malformations. These include pyriform aperture stenosis and choanal atresia. We present the first reported case of simultaneous choanal atresia and pyriform aperture stenosis ...

Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities. It may present with life threatening respiratory distress in the neonate secondary to nasal malformations. These include pyriform aperture stenosis and choanal atresia. We present the first reported case of simultaneous choanal atresia and pyriform aperture stenosis ...

BACKGROUND: Reversible cerebral vasoconstriction syndrome is characterized by thunderclap headache associated with multifocal vasoconstriction of cerebral arteries in patients without aneurysmal subarachnoid hemorrhage (SAH). The vasoconstriction reverts within three months. We report a 44-year-old man who had a thunderclap headache during sexual intercourse. A similar episode occurred at rest 36 ...

Electrohydraulic lithotripsy is a very useful method for fragmenting biliary stones and it can be used for endoscopic removal of difficult biliary stones. Acute afferent loop syndrome induced by enterolith is very rare, and surgical treatment is the usual choice for this condition. We describe a patient with acute afferent ...

Thrombocytopenia with absent radii (TAR) is rare cause of neonatal thrombocytopenia. TAR syndrome and esophageal atresia with tracheoesophageal fistula has been reported in only two cases in literature. Our case was the first in literature with unilateral TAR syndrome and bilateral absence of thumbs accompanying EA.

In childhood, the surgical treatment of gastroesophageal reflux is the main cause of dumping syndrome. We report the cases of 2 children with esophageal atresia who presented with dumping syndrome without any precipitating known factors, such as gastroesophageal reflux surgery or associated microgastria. Our data suggest (1) that dumping syndrome ...

Intestinal atresias are a common cause of newborn bowel obstruction (Dalla Vecchia LK, Grosfeld JL, West KW, et al, Intestinal atresia and stenosis: a 25-year experience with 277 cases. Arch Surg 1998; 133[5]:490-496). Hereditary multiple intestinal atresias, first reported by Guttman et al in 1973, is the rarest form of ...

We report a case of a 63-year-old woman who developed acute right heart failure and an achalasia-like syndrome with limited cutaneous systemic sclerosis (lcSSc) and primary biliary cirrhosis. Intravenous administration of diuretics improved her acute heart failure. Anti-centromere antibodies and anti-mitochondria antibodies were present. A coronary angiogram and a Swan-Ganz ...

Esophageal atresia with/without tracheo-esophageal fistula is a relatively common malformation, occurring in around 1 in 3500 births. In around half of cases, additional malformations are present, forming either a syndrome of known genetic aetiology, or a recognised association, of which the VACTERL association (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal ...

We describe a case of VACTERL syndrome associated with type 1 unilateral caudal regression syndrome. The abnormal sonographic findings at 26 weeks included hemivertebrae, scoliosis, hypoplastic and deformed lumbar spine and sacrum, preaxial polydactyly on the left hand, duplicated hallux on the left foot and hemihypoplasia of the left lower ...

Congenital syphilis is a rare, serious disease that continues to be a major health-care problem. The infected neonate may be asymptomatic or multiple-organ system involvement may occur. Anemia and thrombocytopenia are common hematological findings. Hemophagocytic lymphohistiocytosis (HLH) is a clinicopathological condition characterized by activation and uncontrolled nonmalignant proliferation of T ...