1/7. A case of Zimmermann-Laband syndrome with supernumerary teeth.BACKGROUND: Zimmermann-Laband syndrome is a rare autosomal dominant disorder that is characterized by gingival fibromatosis, ear, nose, bone, and nail defects, and hepatosplenomegaly. methods: This case report describes the clinical presentation and periodontal findings in a 13-year-old female patient with previously undiagnosed Zimmermann-Laband syndrome. RESULTS: Clinical and radiographic findings and genetic counseling confirmed the diagnosis of Zimmermann-Laband syndrome. The most striking oral findings were the presence of gingival enlargement involving both the maxillary and mandibular arches, anterior open bite, non-erupted teeth, and two supernumerary teeth. Periodontal treatment consisted of gingivectomy in four quadrants. Histopathologic evaluation of excised tissue supported the diagnosis of gingival fibromatosis. The patient was referred for appropriate orthodontic treatment and genetic counseling, and has been closely followed for the earliest signs of hepatosplenomegaly. CONCLUSIONS: Dental practitioners should be alert for developmental abnormalities that may occur in patients with gingival fibromatosis as this may indicate the presence of a rare disorder like Zimmermann-Laband syndrome. A comprehensive medical history and physical systemic evaluation are essential for correct diagnosis and treatment of these cases.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/7. Isolated congenital anonychia cases with coincident chromosomal fragility.Isolated anonychia without any associated phenotypical disturbances is one of the rarest anomalies of congenital nail disorders. Some or all fingers of the hands or feet could be affected. Anonychia can be encountered in dermatologic disorders like pemphigus, lichen planus, epidermolysis bullosa; it can also be seen as a component of some syndromes like Nail-patella and Cooks syndromes. We present a sister couple in whom all fingernails and toenails were lacking without any additional physical sign. A fragile chromosomal site was also encountered in peripheral chromosome analysis in the long arm of the chromosome 10 in both of the cases.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/7. Rapp-Hodgkin syndrome.A 5-year-old boy with a history of a bifid uvula and a submucosal cleft palate presented for evaluation of brittle nails. The physical examination demonstrated cup-shaped ears, a broad nasal root, thin upper lip, mid-facial hypoplasia, coarse hair, and twenty-nail dystrophy. The clinical presentation of ectodermal dysplasia with cleft palate was consistent with Rapp-Hodgkin syndrome, which is one of several allelic diseases associated with mutations in the TP63 gene. The clinical manifestations of Rapp-Hodgkin as well as other ectodermal dysplasias with clefting are discussed.- - - - - - - - - - ranking = 9.8970902428781keywords = physical examination, physical (Clic here for more details about this article) |
4/7. Popliteal pterygium syndrome.A syndrome of popliteal pterygium, cleft lip-palate, lower lip pits, eyelid adhesions, genito-urinary anomalies and digital anomalies is presented as the Popliteal pterygium syndrome. The hereditary pattern appears to be an autosomal dominant trait with incomplete penetrance and variable expressivity. The pediatric otolaryngologist should be alert to this syndrome and will be consulted for airway and feeding problems as well as speech and hearing management. Because of the wide variability of expression of popliteal pterygium syndrome, careful physical evaluation of available family members should be made in sporadic cases to confirm the diagnosis in those presenting with minor manifestations and to discover less severely affected relatives of those full expression. Appropriate genetic counseling can then be given to these families.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/7. pachyonychia congenita (Jadassohn-Lewandowski syndrome: case report.We report an illustrative case of pachyonychia congenita, with a description of the presenting complaints, the associated physical findings, the rationale for surgical treatment, and the technical aspects of the surgical treatment.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/7. Nail dysplasia and fetal alcohol syndrome. Case report of a heteropaternal sibship.We found substantial dysplasia of fingernails and toenails in each of four siblings demonstrating other features consistent with a diagnosis of fetal alcohol syndrome (FAS). This aspect of examination is frequently overlooked in routine physical assessments. All four affected teenagers of this heteropaternal sibship demonstrated common features of FAS, including moderate mental retardation, maxillary hypoplasia, an elongated philtrum, and narrow palpebral fissures, as well as absence or dysplasia of two or more nails. Although nail hypoplasia has been previously reported as a minor finding in FAS, a literature review confirmed that nail dysplasia is found in more than 20% of individuals with FAS.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/7. Diaphragmatic hernia in the Coffin-Siris syndrome.At 32 weeks of gestation, delivery of a female fetus was induced because of severe malformations seen on ultrasonogram: congenital diaphragmatic hernia and cerebellar hypoplasia. The diagnosis of Coffin-Siris syndrome was based on the physical examination: coarse face with low-set ears, low nuchal hairline, scalp hypotrichosis and hypoplasia of the nails of fingers and toes with absence of the right fifth fingernail. autopsy confirmed the prenatally diagnosed major associated abnormalities: hypoplasia of the cerebellum and congenital diaphragmatic hernia. Various clinical entities are included in the differential diagnosis.- - - - - - - - - - ranking = 9.8970902428781keywords = physical examination, physical (Clic here for more details about this article) |