Search Results - "Kousseff, B. G."

The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda by Gedeon, A.K., Tiller, G.E., Le Merrer, M., Heuertz, S., Tranebjaerg, L., Chitayat, D., Robertson, S., Glass, I.A., Savarirayan, R., Cole, W.G., Rimoin, D.L., Kousseff, B.G., Ohashi, H., Zabel, B., Munnich, A., Gecz, J., Mulley, J.C.

“…The X-linked form of spondyloepiphyseal dysplasia tarda (SEDL), a radiologically distinct skeletal dysplasia affecting the vertebrae and epiphyses, is caused…”
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Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome) by Amar, M. J. A., Sutphen, R., Kousseff, B. G.

“…Cranioectodermal dysplasia (CED) is an autosomal recessive condition characterized by defects of ectoderm‐derived structures and characteristic bone anomalies…”
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'New' manifestations of BOR syndrome by Weber, Karen M, Kousseff, Boris G

“…Defined in 1975, branchio‐oto‐renal (BOR) syndrome is an autosomal dominant disorder consisting of branchial arch anomalies, hearing loss, and urinary tract…”
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Collodion baby, sign of Tay syndrome by KOUSSEFF, B. G

“…Contemporary pre- and neonatal care has prolonged the survival of newborns with severe genodermatoses, including the harlequin and collodion baby phenotypes.1…”
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Peripheral neuropathy in Ehlers-Danlos syndrome by Galan, Enrique, Kousseff, Boris G.

“…Two unrelated male patients with clinical manifestations of Ehlers-Danlos syndrome type III and peripheral neuropathy are presented. At age 13 years, one…”
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The genetics of malignant melanomas by Kousseff, B G

“…A review of the hereditary aspects of the malignant melanomas showed causal heterogeneity and similar pathogenesis based on the dysregulation of the…”
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XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome) by Sutphen, R, Amar, M J, Kousseff, B G, Toomey, K E

“…Happle syndrome is an X-linked dominant disorder with presumed lethality in hemizygous males; familial occurrence is rare. We describe a family with Happle…”
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Multiple endocrine neoplasia 2 (MEN 2)/MEN 2A (Sipple syndrome) by Kousseff, B G

“…Multiple endocrine neoplasia type 2A (MEN 2A, Sipple syndrome) is an autosomal dominant phakomatosis and is most likely a paracrinopathy. The cardinal…”
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Sacral meningocele with conotruncal heart defects: a possible autosomal recessive trait by KOUSSEFF, B. G

“…Three of four siblings had sacral meningocele with subsequent development of hydrocephaly; two died during the neonatal period due to conotruncal heart defects…”
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Sipple syndrome with lichen amyloidosis as a paracrinopathy: pleiotropy, heterogeneity, or a contiguous gene? by Kousseff, B G, Espinoza, C, Zamore, G A

“…A five-generation white family with multiple endocrine neoplasia type 2A had six affected members. Two, a mother and her daughter, had interscapular cutaneous…”
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Cryptorchidism in mental retardation by Cortada, X, Kousseff, B G

“…We surveyed 148 institutionalized male subjects to study the prevalence of cryptorchidism among mentally retarded individuals. Of the patients 121 (81.7 per…”
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Ankyloblepharon filiforme adnatum in trisomy 18 by Bacal, D A, Nelson, L B, Zackai, E H, Lavrich, J B, Kousseff, B G, McDonald-McGinn, D

“…Ankyloblepharon filiforme adnatum (AFA) is a mild form of ankyloblepharon, in which there is partial thickness fusion of the central portion of the lid…”
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Unique brain anomalies in an infant of a diabetic mother by Kousseff, B G, Villaveces, C, Martinez, C R

“…An offspring of a class F diabetic primigravida with marginal control during the first 8 weeks of the gestation had a level II sonogram at 23 weeks. It showed…”
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Complex chromosome rearrangement with ankyloblepharon filiforme adnatum by Kousseff, B G, Papenhausen, P, Essig, Y P, Torres, M P

“…A Caucasian boy with a de novo complex chromosome rearrangement owing to six chromosome breaks was small for gestation with microcephaly, complex heart defect,…”
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Pleiotropy versus heterogeneity in Proteus syndrome by Kousseff, B G

“…To the Editor.— I read with interest the article by Costa et al1 on a "new" clinical feature in Proteus syndrome. It appears that there is a lot to be learned…”
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Overgrowth management in Klippel-Trenaunay-Weber and Proteus syndromes by Guidera, K J, Brinker, M R, Kousseff, B G, Helal, A A, Pugh, L I, Ganey, T M, Ogden, J A

“…Twenty-eight patients with limb overgrowth and the diagnosis of Klippel-Trenaunay-Weber or Proteus syndromes were evaluated retrospectively. These disorders…”
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Lenz syndrome in two sisters: clinicopathologic correlations of the ocular anomalies by Krishnamurthy, M S, Urban, Jr, R C, Kousseff, B G, Margo, C E

“…The Lenz syndrome (Mendelian inheritance in Man catalog number 309,800) is a presumed X-linked recessive disorder. Major diagnostic criteria include ocular,…”
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Cleft palate and complex chromosome rearrangements by Kousseff, B G, Papenhausen, P, Neu, R L, Essig, Y P, Saraceno, C A

“…Two of three unrelated children with de novo congenital complex chromosome rearrangements (CCR) with more than four chromosome breaks had cleft lip and palate…”
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Angioid streaks associated with hereditary spherocytosis by McLane, N J, Grizzard, W S, Kousseff, B G, Hartmann, R C, Sever, R J

“…We examined members of a family in whom hereditary spherocytosis had appeared in three generations. Angioid streaks were confirmed in the second generation and…”
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Trisomy 3p23----pter and monosomy 11q23----qter in an infant with two translocation carrier parents by Neu, R L, Kousseff, B G, Hardy, D E, Essig, Y P, Miller, K L, Jervis, G A, Tedesco, T A

“…A newborn male infant with multiple congenital abnormalities was found to be trisomic for 3p23---pter and monosomic for 11q23---qter. His parents were both…”
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