1/9. The trisomy 9p syndrome.Since the first description of trisomy 9p in 1970, there has been a rapidly increasing recognition and reporting of new cases. The physical and mental features of retarded growth and development, down-turned corners of the mouth, mildly globular nose, slightly wide-set and deep-set eyes with anti-Mongoloid slant, and unusual dermatoglyphics are distinctive enough to establish trisomy 9p as a clinical chromosomal entity--one which may prove to be the fourth most common autosomal syndrome (after trisomies 21, 13, and 18). This paper includes a review and tabulation of features seen in the 20 reported cases and photographs of the faces of ten of these children. A new case included in this survey demonstrates the practical application of four types of chromosome banding identification (C, G, Q, and R). The confirmation of the chromosomal aberration in this syndrome is dependent on the use of one or more of these special laboratory techniques. Most of the clinical characteristics distinctive of the trisomy 9p syndrome are seen also in other trisomies involving more or less of the number 9 chromosome. From these observations it is determined that the crucial determinants of the classical features of this syndrome lie within the distal half of the number 9 short arm.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/9. Ocular manifestations of Donohue's syndrome.INTRODUCTION: Donohue's syndrome, also known as Leprechaunism, is a rare autosomal recessive disease that manifests at birth with symptoms of endocrine dysfunction. Metabolic characteristics of the disease include postprandial hyperglycemia, fasting hypoglycemia, insulin resistance, hyperinsulinemia, and failure to thrive. The physical features most often associated with this condition include hypertrichosis, pachyderma, acanthosis nigricans, prominent genitalia, and elfin-like facial characteristics of prominent eyes, wide nostrils, thick lips, and large, low-set ears. Not only is this syndrome rare, but it often results in infant and early childhood mortality. The literature regarding ocular manifestations is limited. CASE REPORT: We present a case of a 29-year-old male with Donohue's syndrome and significant ocular findings including a subluxated mature cataract, retinal detachment, high myopia, and optic atrophy. DISCUSSION: These ocular sequelae are discussed with regard to the noted endocrine dysfunction and its effects on tissue development and growth.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/9. 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) |
4/9. Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants.A subtle balanced translocation involving the terminal regions of 1q and 3p was identified in a large family by high-resolution karyotype analysis and confirmed by fluorescence in situ hybridization (FISH) analysis. In this family, segregation of a balanced t(1:3)(q42.3;p25) chromosome translocation led to two types of viable unbalanced complements. The proband inherited the derivative chromosome 3, resulting in partial trisomy of 1q and partial monosomy of 3p. A paternal uncle and cousin had the reciprocal rearrangement with a derivative of chromosome 1, resulting in partial monosomy for 1q and partial trisomy for 3p. While profound mental and physical retardation and congenital heart defects were characteristics for both rearrangements, facial dysmorphism was quite distinct for each imbalance. Individuals who had the derivative chromosome 3 had a long face, wide eyebrows, small palpebral fissures, hypertelorism, prominent glabella, a large tip of the nose, long philtrum with thin upper lip, and low set-ears. In contrast, family members with the derivative of chromosome 1 had a tall forehead with bifrontal narrowing, full and large cheeks, and large simple ears. Since the translocated segments are small and approximately equal in size in this family, it is not surprising that viability was seen in individuals with both types of adjacent-1 segregation. In this kindred, the ratio of normal to abnormal individuals born to balanced carriers is believed to be about 1:1.5. This suggests that the recurrence risk for carriers is 50%.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/9. Cricoid chondrosarcoma presenting as arytenoid hypertelorism.BACKGROUND: Arytenoid hypertelorism (arytenoid cartilages spaced too widely apart) appears to be the most common initial recognizable physical finding of cricoid chondrosarcoma. Nine cases from the Center for voice disorders are presented. With arytenoid hypertelorism caused by cricoid chondrosarcoma, usually the posterior larynx is open. In fact, patients with arytenoid hypertelorism caused by cricoid chondrosarcoma may be aphonic even though the anterior membranous vocal folds make contact during attempted phonation. methods: Between 1991 and 2002, nine patients were diagnosed with cricoid chondrosarcoma. patients' charts and video examinations were retrospectively evaluated for symptoms and the presence of arytenoid hypertelorism on endoscopic evaluation. Two were women, and seven were men, with a mean age of 70 (range 53-72) years at diagnosis. RESULTS: Eight (88%) patients had aphonia or dysphonia caused by arytenoid hypertelorism as their presenting symptom. Six were diagnosed after failed medialization laryngoplasty or other laryngeal rehabilitation surgery. All nine patients had a low-grade tumor. The initial treatment in eight patients was hemicricoidectomy, and one patient had a total laryngectomy. In four cases, a second procedure was needed 1 to 6 years later because of recurrence. Seven patients are alive without clinically significant disease; one is alive with moderate disease, and one has died from an unrelated cause. CONCLUSIONS: Severely dysphonic, elderly patients presenting with arytenoid hypertelorism of unknown cause should be evaluated by fiberoptic laryngoscopy and by computed tomography scan to rule out cricoid chondrosarcoma. Because these tumors behave so benignly, the authors recommend conservative surgery (unilateral hemicricoidectomy) as the diagnostic/treatment modality of choice.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/9. Awan's syndrome (primary orbital hypertelorism, narrow-angle glaucoma and lean physique) in two women.Awan's syndrome, characterized by a lean physique, orbital hypertelorism and angle-closure glaucoma, is a distinct clinical entity which should be more widely recognized. The patients, usually women in their sixth decade, may suffer several self-limiting and misdiagnosed episodes of angle-closure before a definite diagnosis is made. The general physical appearance and hypertelorism in two women, one aged 56 and the other 59 years, with Awan's syndrome aroused the suspicion of angle-closure glaucoma. The timely confirmation of diagnosis and proper management prevented further visual loss in both patients. Some patients with Awan's syndrome may show advanced damage to the optic nerve without ever having had an acute attack of glaucoma or any other symptoms, which makes it important that all patients with orbital hypertelorism and suspected glaucomatous optic discs should undergo gonioscopic evaluation to rule out glaucoma.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/9. aminopterin-like syndrome sine aminopterin associated with translocation involving chromosomes 5 and 10.We studied a baby born with physical features suggestive of the aminopterin syndrome, but without exposure of the mother to aminopterin during pregnancy. G-banded chromosomes from peripheral blood lymphocytes had a normal 46,XX pattern. However, in 50 skin fibroblasts there was a normal female karyotype in 5 cells and 45 cells showed an apparently balanced reciprocal translocation involving the long arm of chromosome 5 (band q35) and the long arm of chromosome 10 (band q22). The relation of this mosaicism to the abnormal phenotype is unclear.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/9. trisomy 12p syndrome: de novo occurrence of mosaic trisomy 12p in a mentally retarded boy.The first case of trisomy of probable 12p mosaicism originated de novo is presented. Comparison of the clinical findings of this patient with those of previously described cases of 12p trisomy derived from translocated chromosomes indicates that the symptoms of 12p trisomy are: (1) normal birth weight and physical development, (2) severe psychomotor retardation and generalized hypotonia, (3) peculiarly round face with prominent cheeks, hypertelorism, epicanthus, broad, flat nasal bridge, short nose with anteverted nostrils, large philtrum, broad, prominent lower lip, and (4) poly(syn)dactyly of feet.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/9. Partial trisomy 10 mosaicism with cutaneous manifestations: report of a case and review of the literature.A female infant with partial trisomy 10 mosaicism and hypomelanosis of Ito is presented. Features include a prominent forehead, hypertelorism, large dysplastic ears, prominent nasal root, a cleft lip and alveolar ridge, bilateral metatarsus adductus, and streaks and whorls of hypopigmented skin. The skin findings were diagnostic for hypomelanosis of Ito. A peripheral blood karyotype was normal. fibroblasts from a junctional skin biopsy revealed mosaicism for partial trisomy of chromosome 10 [46, XX/47, XX, del(10) (q11.2q23.2)]. The physical findings of this patient are compared to five published cases of complete trisomy 10 mosaicism and 94 cases of isolated trisomy 10p and trisomy 10q.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |