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Biomedical subjects

B G Kousseff

Publications and source records attributed to B G Kousseff.

At least 55 records · Page 3Linked to original sources
PubMed1990

Phenotypic overlap of Ehlers-Danlos syndrome types IV and VIII.

An 18-year-old Caucasian woman has been followed since age 12 years for Ehlers-Danlos syndrome (EDS) with easy bruisability and "cigarette paper scars." Her chief complaint at age 17 years was tooth mobility, especially in the anterior mandible, necessitating the removal of the four incisors. Initial biochemical analysis of cultured skin fibroblasts indicated the presence of pepsin-sensitive type III collagen. Subsequent analysis of cultured skin fibroblasts by the same laboratory and another laboratory found no abnormality in the type III collagen with or without protease treatment. This is in distinction to the finding of abnormal type III collagen in the only two reported patients with EDS and early-onset periodontitis who have had collagen analyses. One of them was diagnosed as EDS type IV and the other as EDS type VIII, although the defects of type III collagen were consistent with EDS type IV. The defect in type III collagen in some patients with early periodontitis and the considerable overlap of the clinical manifestations of EDS types IV and VIII point out the need for further studies of collagen formation and maturation in any patient who has early periodontitis and who has been classified with EDS type IV or VIII.

Aggressive Periodontitis↗
PubMed1990

The phakomatoses as paracrine growth disorders (paracinopathies).

A microcomputer database management system retrieved all 170 probands with phakomatoses evaluated through the genetic clinics at the University of South Florida between January 2, 1982 and December 31, 1987. Neurofibromatosis (NF) was the diagnosis of 118 of them; 42 had other phakomatoses and 10 had transitional phenotypes difficult to classify. The analysis of the hamartomas of all probands indicated disorganized differentiation and overgrowth of cell species characteristic for the involved tissue and location. Abundance of extracellular fibrillary components was also evident in most hamartomas. Adequate blood supply was a conditio sine qua non. This was seen in monogenic, sporadic, transitional and combined phakomatoses alike and implied a common pathogenesis. The paracrine growth factors and their regulation emerged as the most plausible common denominator for the pathogenesis. A unitary pathogenetic hypothesis is proposed that the phakomatoses represent paracrine growth regulation disorders (paracrinopathies). Conditions such as fibromatoses, lipomatoses, lipodystrophies, hemihyper/hypotrophies, including Russell-Silver and Beckwith-Wiedemann syndromes may be proven to be paracrinopathies as well.

Dysplastic Nevus Syndrome↗
PubMed1989

Complex microphthalmos.

Forty patients were diagnosed as having complex microphthalmos on the basis of a malformed globe with a total axial length measurement at least 2 SDs below the mean for age-similar controls. Three had anterior segment dysgenesis; 4, congenital lens abnormalities; 14, chorioretinal colobomas; 12, persistent hyperplastic primary vitreous; 4, retinal dysplasia; and 3, complex malformations due to ipsilateral facial malformations. Measurements of total axial length indicated that complex microphthalmos was congenital and that postnatal growth of the malformed eye was similar to that of normal eyes. In most patients the anterior segment length was normal, while in all patients the posterior segment length was at least 2 SDs below the mean. Corneal diameter correlated significantly with total axial length (r2 = .57) and decreased linearly as total axial length decreased. In most patients in whom measurements were obtained, the lens and corneal power were increased, thereby compensating for decreased total axial length. We propose that inadequate production of secondary vitreous is the cause of the microphthalmos, given that the posterior segment was disproportionately reduced in size and the secondary vitreous is its predominant component. Evidence that each of the various ocular malformations can influence the production of secondary vitreous is presented.

Abnormalities, Multiple↗
PubMed1989

Simple microphthalmos.

Simple microphthalmos was diagnosed in 22 patients on the basis of a normal-appearing eye and a total axial length at least 2 SDs below the mean for age. Anterior segment length was normal in most patients while posterior segment length was at least 2 SDs below the mean in all patients, indicating that disproportionate reduction in posterior segment length accounted for the microphthalmos. The normal values for total axial length, anterior segment length, and posterior segment length were determined from the analysis of axial length measurements obtained from age-similar controls. Ten patients had isolated microphthalmos. One of them was diagnosed as having nanophthalmos on the basis of microcornea, total axial length less than 18 mm, and absence of systemic disease. Twelve patients had associated systemic disorders, such as fetal alcohol syndrome, myotonic dystrophy, and achondroplasia, which implicated decreased size of the optic cup, altered vitreous proteoglycans, low intraocular pressure, and abnormal release of growth factors in the pathogenesis of microphthalmos.

Adult↗
PubMed1989

"Vascular neurofibromatosis" and infantile gangrene.

An 11-year-old boy with slowly progressive gangrene caused by vasculopathy similar to that of neurofibromatosis (NF) type 1 (NF I; von Recklinghausen disease [NFvR]) and a newborn girl with idiopathic gangrene with vascular changes resembling those of NFvR prompted the analysis of all 105 propositi with NF (NF I and NF II) evaluated between January 2, 1982, and December 31, 1986, at the genetics clinic of University of South Florida. They were analyzed for renal hypertension, symptomatic ischemia, and known vascular changes. One additional 27-month-old boy with NFvR was found to have extensive vascular changes with renal hypertension. The vasculopathy indicated asymmetric over/undergrowth of cellular and extracellular components of the vascular wall and implied dysregulation of the paracrine growth mechanism. Immunocytochemical studies of affected vessels were done only in the 11-year-old boy and showed positive neuron-specific enolase, S-100 protein, and glial fibrillary acidic protein (GFAP) reactions indicative of Schwann cell involvement. The vascular changes in children with NFvR are mostly asymptomatic; however hypertension secondary to renal artery stenosis and/or Moya-moya disease have been reported infrequently. Our patients with vasculopathies provoked thoughts in regard to the so-called vascular NF, its place in current NF nomenclature and classification, relationship to fibromuscular dysplasia (FMD), and possible role in infantile gangrene.

Angiography↗
PubMed1988

Monosomy, trisomy, fragile sites, and rearrangements of chromosome no. 1 in a mentally retarded male with multiple congenital anomalies.

A 17-year-old male was referred for evaluation because of short stature and severe mental retardation. Major clinical findings included microphthalmia, micrognathia, low-set ears, a prominent beaked nose, clubbing of digits, and premature graying of hair. Cytogenetic analysis revealed a 45,XY,-1/46,XY/47,XY,+1 mosaicism in lymphocytic culture, a 45,XY,-1/46,XY mosaicism in skin fibroblasts, and fra(1p) sites in 2% of the metaphases from lymphocyte, fibroblast and bone marrow cultures. Post-zygotic non-disjunction causing this mosaicism is believed to be responsible for the patient's phenotype.

Abnormalities, Multiple↗
PubMed1987

Complex chromosome rearrangements and congenital anomalies.

Congenital complex chromosome rearrangements (CCR) compatible with life are rare in man. Thus patients with CCR usually present considerable diagnostic difficulties both clinically and cytogenetically. We studied a 12-year-old mentally retarded male with minor congenital anomalies as described below and his first-degree relatives. The propositus had an unbalanced karyotype with eight break points and seven derivative chromosomes; two deletions, del(6) (q25----qter) and del(14) (q31----qter), and four translocations, t(2;11), t(5;15), t(6;11), t(6;20) were present. Parental chromosomes were normal; however, the mother had a few metaphases with abnormal chromosomes suggestive of chromosome instability. These findings and a review of reported patients with CCR are presented with regard to speculations about etiology, pathogenesis, phenotypic expression, and prognosis. Physicians should be aware of CCR and broader indications for cytogenetic studies appear warranted in view of these data.

Abnormalities, Multiple↗
PubMed1987

Unique mosaicism in Prader-Labhart-Willi syndrome--a contiguous gene or aneuploidy syndrome?

A 16-year-old boy with Prader-Labhart-Willi syndrome (PLWS) had hypotonia, feeding difficulties, failure to thrive, strabismus and bilateral inguinal hernias with cryptorchidism during infancy followed by hyperphagia, marked early-onset obesity with insulin-dependent diabetes mellitus and necrobiosis lipoidica diabeticorum, short stature, hypogonadotropic hypogonadism and some of the facial characteristics of the individuals with the PLWS. IQ is estimated around 90. Cytogenetic studies showed mosaicism: 45,X, t(Y;15) with partial deletion 15 (15pter----15q12); 46,X, t(Y;15), dic (15)(15pter----15q12::15q12----15pter) and 47, X, t(Y;15), dic(15), dic(15). The dic(15) was bisatellited, NOR-positive on both arms and represented inv dup(15). Thus, the 2 lines with the dic(15) showed partial trisomy 15 (15pter----15q12) and partial pentasomy 15 (15pter----15q12), respectively. The cell line ratios were different in lymphocyte and fibroblast cultures. The unique cytogenetic findings in this patient, the reports of a variety of chromosome 15 aberrations in PLWS, as well as aberrations of other chromosomes, suggest that the condition is a contiguous gene syndrome rather than an aneuploidy syndrome.

Adolescent↗
PubMed1987

Familial Prader-Willi syndrome.

Three adult sisters with previously unrecognized Prader-Willi syndrome (PWS) demonstrated the six diagnostic features of this congenital condition: neonatal hypotonia, hypomentia, hypogonadism, obesity, short stature, and dysmorphism. Detailed endocrine investigations were performed, including ovarian biopsy in the propositus. HLA genotype A2 was present in each patient. The normal high-resolution prometaphase karyotypes indicated heterogeneity; the absence of the deletion 15q12 frequently found in patients with sporadic PWS distinguished this sibship as representing a possible autosomal recessive type of PWS. Current evidence suggests that the diagnosis of PWS may be often overlooked. Increased clinical awareness of the features of PWS should result in prompt diagnosis and optimal management of affected patients, together with increased understanding of this enigmatic condition.

Adult↗
PubMed1985

Facioscapulohumeral dystrophy with cochlear hearing loss and tortuosity of retinal vessels.

We report on a mother and her three children with facioscapulohumeral dystrophy (FSHD), sensorineural hearing loss, and marked tortuosity of the retinal vessels. Initially the children presented with speech difficulties and hearing deficit. Hearing loss ranged from mild to severe. An audiologic evaluation, including brain stem auditory evoked responses in all patients, indicated a cochlear origin of hearing loss and intact pathways from the cochlea to the temporal lobe. The association of FSHD with hearing loss and tortuosity of the retinal vessels suggests previously unrecognized pleiotropy of FSHD (McKusick 15890) or a "new" type of FSHD.

Adolescent↗