OBJECTIVES: Fibroblast growth factors consist of receptor tyrosine kinase binding proteins involved in growth, differentiation, and regeneration of a variety of tissues of the head and neck. Their role in the development of teeth has been documented, and their presence in human odontogenic cysts and tumors has previously been investigated. ...

PURPOSE: Studies have suggested that testicular microlithiasis and Down syndrome are linked, yet a correlation remains unclear. We investigated the prevalence of testicular microlithiasis in patients with Down syndrome. We hypothesized that testicular microlithiasis is present at a higher rate in these patients. We further hypothesized that patients with Down ...

Carpal tunnel syndrome is one of the most costly upper extremity disorders in the working population. Past literature has shown an association between personal and work factors to a case definition of carpal tunnel syndrome but little is known about the combined effects of these factors with the development of ...

Kallmann syndrome (KS) is a genetic disorder characterized by the simultaneous occurrence of idiopathic hypogonadotropic hypogonadism (IHH) and anosmia. Here, we present 3 cases of KS with detailed description. In Case 1, testicular morphology was examined by testicular biopsy, and Leydig cells were examined by immunohistochemistry using antibodies against Ad4BP/SF1. ...

Because of an apparent sexual ambiguity (enlarged clitoris), a 1-year-old mongrel dog was presented to the clinic. A positive result on a GnRH stimulation test revealed the existence of functional testicular tissue. A midline laparotomy was performed, and gonads resembling testes were resected along with the adherent parts of the ...

Persistent Mullerian duct syndrome is a rare form of male pseudohermaphroditism, characterized by the presence of the Mullerian duct structures in an otherwise phenotypically as well as genotypically normal male. We report two cases of males with cryptorchidism, and seminoma in the undescended abdominal testis along with Mullerian duct derivatives ...

Intrascrotal extratesticular neurofibromas (IEN) often originate from genitofemoral nerve (GFN) and present as a paratesticular mass. Synchronous presence of IEN and undescended testis has not been reported previously. A 12-year-old boy with neurocutaneous syndrome and congenital giant melanocytic nevi along with IEN and ipsilateral undescended testis is presented, to discuss ...

Objective. To evaluate the maturity of the peripheral vestibular system in Down syndrome by examining the number of Scarpa's ganglion cells and the density of vestibular hair cells. Study Design. Case-control study using human temporal bones. Setting. Tertiary academic center, otopathology laboratory. Subjects and Methods. Sixteen temporal bones from 8 ...

Superior semicircular canal dehiscence syndrome (SSCDS) is a set of symptoms, related to vestibular and/or auditory, which dues to a dehiscence of bone at the superior semicircular canal. We reported an extremely rare case with idiopathic bony dehiscence at the lateral semicircular canal, which presents the similar symptoms with SSCDS, ...

Richieri-Costa/Guion-Almeida syndrome type 1 (RCGAS1) is a rare MR/MCA syndrome comprising developmental and growth delay, microcephaly, prominent supraorbital ridges, asymmetric ptosis and eyebrows, esotropia, nystagmus, eye colobomas, and cleft lip/palate. It was originally described in three brothers and an additional sporadic male. The same authors also described a further family ...

Richieri-Costa/Guion-Almeida syndrome type 1 (RCGAS1) is a rare MR/MCA syndrome comprising developmental and growth delay, microcephaly, prominent supraorbital ridges, asymmetric ptosis and eyebrows, esotropia, nystagmus, eye colobomas, and cleft lip/palate. It was originally described in three brothers and an additional sporadic male. The same authors also described a further family ...

Semicircular canal dehiscence (SCD) syndrome is rare, and its diagnosis is a significant challenge in clinical practice. Our aim was to explore application of the loud sound stimulation test for diagnosing SCD syndrome. Eight cases of superior semicircular canal dehiscence (SSCD), among them two patients had bilateral dehiscences and one ...

There have been several case reports of risperidone-associated dysphagia. Risperidone-induced bulbar palsy-like syndrome has not been previously described. We report on a 58-year-old gentleman with prior history of schizophrenia and remote chlorpromazine use with no history of extrapyramidal symptoms who experienced acute onset of dysphagia and facial diplegia with hyperprolactinemia ...

CLOVES syndrome is a recently described overgrowth disorder with complex vascular anomalies. Careful analysis of the case report by the German physician Hermann Friedberg "gigantism of the right lower limb" published in 1867 revealed that the report probably represents one of the first written accounts of CLOVES syndrome.

Goodpasture's syndrome is an autoimmune disease that has rarely been described in children, and only 21 cases have been reported till now. Here is a case of a 9-year-old boy who was diagnosed to have Goodpasture's syndrome.

Hypoglossia-hypodactyly syndrome is characterised by small tongue associated with limb deficiency. It is an extremely rare condition with around 30 cases reported in world literature. We report a case of hypoglossia-hypodactyly syndrome that in addition to features already described also had supernumerary nipples, microcephaly and micropenis with cryptorchidism. Hypodactyly was ...

ABSTRACT Total absence of ribs is a rare finding that has occasionally been documented in patients with cerebrocostomandibular syndrome. Only 2 other reports document complete absence of ribs in 3 individuals, and we tabulate the findings of all the 4 cases of complete absence of ribs in this case report. ...

To describe a case of Goldenhar syndrome in a couple receiving donated oocytes in an 'egg sharing' IVF cycle where the recipient of donor oocytes had Turner syndrome, hypothyroidism and gestational diabetes. Case report Child born to oocyte recipient with Goldenhar syndrome We believe this is the first reported case ...

We report a case of compartmental syndrome of the left upper limb secondary to a severe Moraxella lacunata infection, an unusual pathogen, occurring in a young black male immigrant to the island of Gran Canaria, Spain. We propose a pathophysiological relationship with patera foot syndrome.

BACKGROUND: In 2006, a US Food and Drug Administration (FDA) alert warned about the potential life-threatening risk of serotonin syndrome when triptans are used in combination with selective serotonin reuptake inhibitors (SSRIs) or selective serotonin/norepinephrine reuptake inhibitors (SNRIs). This American Headache Society Position Paper further reviews the available evidence of ...

INTRODUCTION: Optic neuromyelitis or Devic's syndrome is a very rare disease affecting the optic tracts and the spinal cord. Its association with evolving pulmonary tuberculosis has been reported in a handful of case reports. CASE REPORT: The authors report two cases of Devic's syndrome associated pulmonary tuberculosis (48 and 43 ...

Non-steroidal anti-inflammatory drugs are commonly prescribed in dental practice after minor oral surgical procedures such as tooth extraction. Diclofenac sodium is one of the non-steroidal anti-inflammatory drugs widely used for pain relief in dentistry. Although adverse reactions to these drugs are rare, at times they can cause a life-threatening phenomenon. ...

We report the case of a woman with Münchausen syndrome who surreptitiously injected epinephrine causing recurrent ventricular tachyarrhythmias accompanied by dramatically high plasma levels of epinephrine and normal norepinephrine levels.

Evans syndrome is an autoimmune disorder characterized by the simultaneous or sequential development of autoimmune hemolytic anemia and immune thrombocytopenia. It may be primary (idiopathic, or associated with other diseases. First line therapy is immunosupression. A second line therapy includes danazol and splenectomy. Rituximab was approved by the Federal Drug ...

Tubulointerstitial nephritis with uveitis (TINU) syndrome is an unusual and under diagnosed cause of acute interstitial nephritis. The interstitial nephritis may precede, follow or develop concurrent to the uveitis. About 200 cases have been reported worldwide with only a single case reported from India. We report a 16-year-old male with ...

Orofaciodigital (OFD) syndrome is a generic name for a variety of different but possibly related genetic disorders that result in malformations of the mouth, teeth, jaw, facial bones, hands, and feet and are therefore categorized as oroacral disorders. Nine subtypes of OFD syndromes have been identified. OFD type V is ...

To determine if expanded queries can be used to identify specific reportable diseases/conditions not detected by using automated syndrome categories, we developed new categories to use with the Electronic Surveillance System for the Early Notification of Community Based Epidemics. Results suggest innovative queries can enhance clinicians' compliance with reportable disease ...

We report a 5-year-old male child with absent rib, hemivertebra, superior lumbar hernia (features of lumbocostovertebral syndrome) and posterior spinal dysraphism, which is the second case in the English literature with such a combination of defects. Radiology and management of the case is discussed.

First bite syndrome is the classic symptomatology of pain in the parotid region that occurs in response to the first bite of a meal. We report two cases of this syndrome in patients after operations to the parapharyngeal space.

A rare case of hypoplastic left heart syndrome associated with pulmonary stenosis detached prenatally is reported.

Neurovascular anomalies of Parry-Romberg syndrome have been reported infrequently. We report a case of Parry-Romberg syndrome with hypoplastic left internal carotid, middle cerebral, anterior cerebral, posterior communicating and posterior cerebral artery. The patient presented with partial seizures, hemiparesis and phthisis bulbi.

SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome represents a spectrum of various dermatologic and musculoskeletal conditions. Thromboses have infrequently been reported in SAPHO syndrome, most often in the subclavian vein. There have been no reported cases of pulmonary emboli associated with SAPHO. We report a case of a young ...

We report a male infant with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO syndrome). Radiographs showed a short angulated left tibia with fibular aplasia and ipsilateral oligodactyly. We consider our case the 7th patient with FATCO syndrome.

Multiple circumferential skin folds have been reported as part of the Michelin tire baby syndrome (MTBS). There has been a wide spectrum of associated clinical findings reported in children with MTBS. We report a case of MTBS associated with a thickened epiglottis.

Congenital Hemidysplasia with Ichthyosiform Nevus and Limb Defects (CHILD) is a very rare entity inherited as an X-linked trait. The cutaneous lesions are characteristic and usually involve the right side of the body. We report a case of CHILD syndrome in an Indian child affecting the left side with various ...

We present a case of the Goldston syndrome which is the association of polycystic kidneys with Dandy-Walker malformation. The diagnosis was made by ultrasound in twenty second week of gestation. Obstetric ultrasound and fetal MRI studies showed hydrocephalus, agenesis of the cerebellar hemispheres, vermian hypoplasia, cystic dilatation of the 4(th) ...

Minimal invasive thoracic surgery is growing rapidly and may become the standard of care for certain diseases. Its benefits over traditional surgery, including reduced morbidities and hospital stay, have been well established in several reports. We herein report a case of midesophageal leiomyoma in a patient with MEN I syndrome ...

A syndrome of community acquired liver abscess caused by highly virulent hypermucoviscous, rmpA positive Klebsiella pneumoniae strains occurs with high incidence in Asia. We here report a case complicated by metastatic infection, to our knowledge, the first one described in Northern Europe. This and other recently reported cases indicate the ...

BACKGROUND: Basal cell carcinoma (BCC), the most prevalent form of cancer worldwide, is a malignant skin neoplasm. It is locally invasive, with an exceptional incidence of reported metastasis. It can also be part of the Gorlin-Goltz syndrome, an autosomal dominant genetic disorder with high penetrance and variable expressivity, which is ...

We report the first clinical case of a term infant with findings suggestive of lumbocostovertebral syndrome and VACTERL association. Renal agenesis was suspected by prenatal ultrasound, and at birth clinical findings included a large abdominal wall hernia, imperforate anus, vestibular fistula, absent right rib, vertebral anomalies, tethered cord, syringomyelia, and ...

Locked-in syndrome is characterized by upper motor neuron quadriplegia, paralysis of lower cranial nerves, bilateral horizontal gaze palsy and anarthria, with preserved consciousness. It is due to a ventral pontine lesion following a basilar artery occlusion. We report the first Indian case report of locked-in syndrome, a 10-year old girl ...

We present a case of a 43-year-old male with an extreme form of the twiddler's syndrome - almost complete lead dislodgement associated with their fracture.

Ascher syndrome is a rare disease described by Ascher, an ophthalmologist from Prague, in 1920. We report a case of an 8-year-old child, who presented with recalcitrant recurrent swelling of bilateral upper eyelids, probably a forme fruste of Ascher syndrome.

Hyperimmunoglobulinemia E (Job's) syndrome is characterized by markedly increased levels of immunoglobulin E, recurrent cutaneous and systemic pyogenic infections, atopic dermatitis, and peripheral eosinophilia. Although ocular involvement in Job's syndrome is rare, there are reports of keratoconus, staphylococcal chalazia with blepharitis, and endophthalmitis by various authors. We present the first ...

Cystic fibrosis (CF) is of particular importance in Ireland as the Irish population has both the highest incidence (2.98/10,000) and the highest carrier rate (1 in 19) in the world. Primary immunodeficiency has not been previously reported as co-existing with CF. We report a unique case of CF associated with ...

Maffucci's syndrome is a rare congenital mesodermal dysplasia combined with dyschondroplasia and hemangiomatosis. About 150 cases have been reported till now. Maffucci's syndrome is often combined with other neoplasms. Herein, we report a patient with Maffucci's syndrome and hemangiomas on the dorsum of the tongue, which is rare in this ...

There are few reports of the typical radiographic findings in the hands and feet of patients with Muenke syndrome. We present a case report of a young girl with Muenke syndrome, whose diagnosis was made following the observation of coalitions and coned epiphyses on hand radiographs.

Poland syndrome is an uncommon unilateral deformity of chest wall and upper extremity with variable manifestations. Although numerous case reports of Poland syndrome associated with malignancies have been published, intracranial germ cell tumor in Poland syndrome has not been previously reported. The authors describe a 15-year-old male patient with intracranial ...

Although carbamazepine (CBZ) is the most common cause of Stevens-Johnson syndrome (SJS), a new anticonvulsant, oxcarbazepine, which is structurally related to carbamazepine, has been shown to induce SJS, although extremely rarely. Recently, a strong association was found between human leukocyte antigen (HLA) B*1502 and CBZ-induced SJS/TEN in a Han Chinese ...

Hemophagocytic syndrome is a clinical condition characterized by the infiltration of the bone marrow and reticuloendothelial system by macrophages and activated histiocytes, leading to uncontrolled phagocytosis of platelets, erythrocytes, lymphocytes and precursor cells. It is a severe inflammatory and aggressive condition, characterized by high fever, hepatosplenomegaly, lymphadenopathy and cytopenia, and ...