Palmoplantar hyperkeratosis with short stature, facial dysmorphism, and hypodontia--a new syndrome?: case report

In this study, a possible new syndrome affecting 18 members of a family spanning 4 generations is described. The main features include palmoplantar hyperkeratosis, proportionate short stature, facial dysmorphism, clinodactyly, epilepsy, deafness, and hypodontia. This syndrome is inherited in an autosomal dominant manner with a high degree of penetrance but variable expressivity. This syndrome differs markedly from the autosomal recessive types of palmoplantar hyperkeratosis such as Papillon-Lefèvre syndrome which shows premature loss of both dentitions. It is also distinct from other previously described cases of autosomal dominant forms of palmoplantar hyperkeratosis such as the Unna-Thost syndrome in that it presents short stature, facial dysmorphism, and hypodontia. These features which previously have not been associated with palmoplantar hyperkeratosis suggest that this may be a new syndrome.     

Franceschetti syndrome

Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is commonly known as Treacher Collins syndrome (TCS). It is named after E. Treacher Collins who described the essential components of the condition. It affects both genders equally. This article reports a case of TCS in an 18-year-old female.     

The Hajdu-Cheney syndrome. A review of the literature and report of 3 cases

The Hajdu-Cheney syndrome or acro-osteolysis syndrome is a rare disease. Only 18 well-documented cases are described in the literature. Presentation of cases in the oral surgical literature is rare. The syndrome is characterized by dissolution of terminal phalanges of the hands and feet, dolichocephaly, open cranial sutures, multiple wormian bones, absence of frontal sinuses, wide open sella turcica, progressive basilar invagination, early loss of teeth, short stature and characteristic facies. Inheritance is most likely autosomal dominant. 3 patients are presented, 2 of them are mother and son, the latter (case 2) being the youngest patient reported to date. The parents of the 3rd patient were consanguineous, raising the possibility of genetic heterogeneity. Dental, surgical and genetic aspects are discussed.     

Dental caries history in nine children with chromosome 18p deletion syndrome

Chromosome 18p deletion syndrome is caused by the deletion of a portion of genetic material on the short (p) arm of chromosome 18. Many of 100 prior case reports In the medical literature describing the dental health of subjects with this syndrome reported multiple carles associated with the syndrome. At the third annual International conference of The Chromosome 18 Registry & Research Society, dental examinations were carried out on nine children with chromosome 18p deletion syndrome and five of their unaffected siblings. The dental examination Included an intra-oral evaluation of coronal decay and filled permanent teeth surfaces (DFS) and decayed and filled primary tooth surfaces (dfs) using a mouth mirror, explorer, and a high-Intensity fiber optic light An evaluation of the data revealed that five of nine children with 18p deletion syndrome (56%) were free of tooth decay or a history of tooth decay. Four of the nine (44%) had tooth decay or a history of tooth decay. The prevalence of decay was quite similar in the genetically unaffected siblings. Three of the five (60%) unaffected siblings of the children with 18p- were free of tooth decay, whereas two of the five (40%) had tooth decay. One of the affected children had a missing mandibular left central incisor. None of the children had abnormally shaped teeth. The caries pattern seems to be similar to that reported in the NHANES III data collected In the United States from 1388–1991. Analysis of these preliminary data suggests that the risk for carles In chromosome 18p deletion syndrome may be lower than previously reported.     

Salivary LL-37 secretion in individuals with Down syndrome is normal

Antimicrobial peptides play an important role in the innate immune response. Deficiency in salivary LL-37 antimicrobial peptide has been implicated in periodontitis in patients with morbus Kostman syndrome. Down syndrome is associated with periodontitis, diminished salivary flow, and salivary immunoglobulin deficiency. In the present study, levels of LL-37 and its hCAP18 precursor were measured in saliva samples from young individuals with Down syndrome and compared with levels in those from age-matched healthy controls. LL-37 and human cathelicidin antimicrobial protein (hCAP18) were detected in whole but not in parotid saliva. hCAP18 was more abundant than LL-37. The concentrations of salivary hCAP18 and LL-37 were found to be higher in individuals with Down syndrome than in healthy controls, but their secretion rates were similar. We concluded that, while the adaptive immunity of individuals with Down syndrome is impaired at the oral mucosa, the secretion rate of the LL-37 component of the innate immune system is normal.     

Kabuki syndrome, a congenital syndrome with multiple anomalies

The characteristics of a 5-years old girl, referred to a multidisciplinary team for cleft lip and palate because of speaking problems, were diagnosed as Kabuki syndrome. The Kabuki syndrome is a congenital syndrome of unknown aetiology, diagnosed based on a combination of clinical findings. It is characterised by distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, developmental delay and mild to moderate mental retardation. Children with the syndrome often have oral manifestations such as cleft palate, missing permanent teeth and conic crowns of upper incisors. The Kabuki syndrome was first described regarding the Japanese population but it is now known to occur in many other races as well. In a recent publication, 20 Dutch patients with Kabuki syndrome were described.     

Schimmelpenning syndrome: an association with vascular anomalies.

OBJECTIVE: Schimmelpenning syndrome is a rare neurocutaneous disorder characterized by craniofacial nevus sebaceus in association with seizures, developmental delay, and ocular or skeletal pathology. Vascular anomalies also have been described in this condition, and some authors have suggested that the two entities are associated. The purpose of this study was to determine the prevalence of vascular anomalies in Schimmelpenning syndrome. METHODS: We reviewed the medical records of patients with Schimmelpenning syndrome who were evaluated or were managed at Children's Hospital Boston between 1980 and 2005. In addition, all published cases purported to be Schimmelpenning syndrome were analyzed to determine whether the primary diagnosis was accurate and whether or not there were concurrent vascular anomalies. RESULTS: Three of nine patients (33.3%) in our series had a vascular malformation. One patient had coarctation, aortic aneurysm, renal artery, and carotid stenosis; another had a thoracic lymphatic anomaly with chylothorax; and the third had lymphedema of the lower extremities and lymphatic malformation of the neck/chest with chylothorax. Additional findings were seizures (78%), ocular pathology (78%), developmental delay (56%), and skeletal abnormalities (67%). Of 119 cases of authenticated Schimmelpenning syndrome in the literature, 18 vascular malformations were documented in 15 patients (12.6%): venous (n = 7); arterial (n = 5); lymphatic (n = 3); capillary (n = 2); and arteriovenous (n = 1). CONCLUSIONS: Vascular malformations occur with a higher frequency (12.6 to 33%) in patients with Schimmelpenning syndrome compared with the general population (<1%). Therefore, we conclude that there is an association between vascular anomalies and Schimmelpenning syndrome.     

Cervical spine in Treacher Collins syndrome

Treacher Collins syndrome is a congenital syndrome with characteristic craniofacial malformations, which are well described in the literature. However, the presence of cervical spine dysmorphology in this syndrome has been minimally described. This study reviews cervical spine radiographs of 40 patients with Treacher Collins syndrome. In this sample, 7 of 40 patients displayed cervical spine anomalies, with 3 of these patients displaying multiple cervical spine anomalies. The patterns of spinal anomalies were variable, suggesting that the underlying genetic mutation has variable expressivity in cervical spine development as it does elsewhere in the craniofacial skeleton.     

Kocher Debre Semelaigne syndrome and associated orofacial aspects: report of a case

Myopathy and muscular pseudohypertrophy associated with severe congenital hypothyroidism has been described as Kocher Debre Semelaigne syndrome, which is a rare disorder with only a few previously published reports. However, none of these reports have described the orofacial aspects of this syndrome. Here we report one such case, which may provide valuable information to specialists in oral healthcare regarding the associated orofacial aspects.     

Dental management of a pediatric patient with myelodysplastic syndrome

Myelodysplastic syndrome in the pediatric population is an extremely rare-hematological disorder. An eleven-year-old girl with a remarkable, past medical history of myelodysplastic syndrome is presented. She was treated for a falling hematocrit and platelet count, with splenectomy as a lifesaving measure. The features of the syndrome and treatment options are described. The clinical protocol for the dental management of the pediatric patient with myelodysplastic syndrome is discussed.     

A new surgical procedure for correction of lip deformity in cranio-carpo-tarsal dysplasia (whistling face syndrome).

A child with cranio-carpo-tarsal dysplasia or whistling face syndrome is described together with a new surgical procedure for the correction of the mouth deformity. The syndrome is rare; only approximately 40 cases have been described in the literature since 1938. Correction of the facial appearance is of great importance to the affected individuals because of emotional problems they may develop as a reaction of their anomalies. Although the majority of cases have been sporadic, the syndrome can be transmitted as an autosomal dominant trait. Therefore, genetic counseling for affected persons should be offered.     

The clinical x-ray aspects of the diagnosis and treatment of the temporomandibular joint pain dysfunction syndrome

Clinical and x-ray picture of the syndrome of painful dysfunction of the temporomandibular joint is described. Differential diagnosis of this syndrome and other articular diseases with similar clinical symptoms is presented. Treatment strategy is described in brief.     

Superior orbital fissure syndrome in a 7-year-old boy

Traumatic injuries of the skull may lead to the superior orbital fissure syndrome. Etiology, clinical features, prognosis and treatment are discussed on the basis of the occurrence of the syndrome in a 7-year-old boy. The syndrome has never been described in a patient of this age. Until this case report, the youngest patient described in the literature was 32 years of age.     

Melkersson-Rosenthal syndrome: review of the literature and case report of a 10-year misdiagnosis.

Melkersson-Rosenthal syndrome is classically described as a triad of orofacial swelling, facial palsy, and fissured tongue. More often this syndrome presents in its oligosymptomatic forms. Melkersson-Rosenthal syndrome may not be as rare as suspected but rather a syndrome that often goes undiagnosed. Presented is the case of a mentally challenged man who was eventually diagnosed with Melkersson-Rosenthal syndrome only after being misdiagnosed and incorrectly treated for an odontogenic infection for more than a decade.     

Lowe syndrome: literature review and case report

This paper is the first to describe dental findings and orthodontic characteristics of a young adult patient with Lowe syndrome. This syndrome is a rare genetic disorder inherited by a sex-linked pattern, involving primarily the kidneys, eyes and nervous system, which also present oral manifestations. This paper also present the results of careful extra and intra-oral evaluations and the findings of panoramic and cephalometric radiographs of an 18-year-old male with Lowe syndrome.     

Zimmermann-Laband syndrome: a case report

Zimmermann-Laband syndrome is a very rare disorder characterized by gingival fibromatosis, abnormalities of soft cartilages of the nose and/or ears, hypoplastic or absent nails and terminal phalanges, joint hypermobility, hypatoslenomegaly, mild hirsutism and learning difficulties. Early presentation of Zimmermann-Laband syndrome in a newborn has rarely been described. This paper describes a newborn patient with Zimmermann-Laband syndrome.     

New dental findings in the median cleft facial syndrome

BACKGROUND: The main features of median cleft facial syndrome are hypertelorism, cranium bifidum occultum, widow's peak, and midine clefting of the nose, upper lip and palate. Since this pathology was first described in 1967, many cases have been reported in the literature, but none of these reports has addressed oral anomalies in depth. CASE DESCRIPTION: The authors present the case of a female patient aged 4 years and 7 months who was diagnosed with median cleft facial syndrome. In this case, the patient had an abnormal number of teeth, owing to fusion or agenesis of teeth, supernumerary teeth and ectopic eruption of some teeth. These oral anomalies had not been described before in the literature as being associated with this syndrome. CLINICAL IMPLICATIONS: Median cleft facial syndrome is a rare pathology; however, dentists should know its possible alterations at an oral level, because children with this syndrome need dental treatment to achieve good esthetics and correct occlusion.     

Management of an ameloblastoma in a patient with Sanfilippo's syndrome

Detection and subsequent surgical management of an acanthomatous ameloblastoma is described in a patient with Sanfilippo's syndrome, type A. The literature does not support a correlation of ameloblastoma to the presence of Sanfilippo's syndrome.