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T Kushnick

Publications and source records attributed to T Kushnick.

At least 19 recordsLinked to original sources
PubMed1992

Long-term evaluation of a child with the branchio-oculo-facial syndrome.

We report on the 12-year development of a child with branchio-oculo-facial syndrome who was initially referred at age 5 months. Of note is his normal intelligence, regular class placement, hypernasal speech, and continued growth along the third centile. The importance of serial observations of patients with rare genetic disorders is emphasized.

Abnormalities, Multiple↗
PubMed1992

Agonadism in a 46,XY patient with CHARGE association.

We report on an infant girl born with findings of CHARGE association who proved to be a genetic male (46,XY) on cytogenetic study. Further investigation of the genitalia demonstrated partially female internal organs but absence of gonads by ultrasonography, hormone studies, and absence of ZFY by DNA probe of Yp. Pelvic exploration confirmed lack of gonadal tissue and uterus. Facial phenotype was compatible with CHARGE appearance.

Abnormalities, Multiple↗
PubMed1987

45X/46X,r(X) with syndactyly and severe mental retardation.

Two white females, age 2 1/2 and 33 years, respectively, were investigated because of severe mental retardation associated with neurologic abnormalities, coarse face, and soft tissue syndactyly involving upper and lower limbs. Each had cytogenetic findings of a mosaic variant of Ullrich-Turner syndrome with X ring chromosome in peripheral lymphocyte and skin fibroblasts. Early X replication occurred in one-third of the X ring chromosomes; there was no evidence for X-autosome translocation involving either X and an autosomal duplication; results of studies for fragility of the X chromosomes were unremarkable. In situ hybridization with an X centromere probe was positive for the ring. To our knowledge, the unusual constellation of cytogenetic, physical, and mental findings seen in these 2 individuals has not been reported previously.

Adult↗
PubMed1986

The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients.

Eight patients (three sporadic, five from two families) with the velo-cardio-facial syndrome (VCFS) or Shprintzen syndrome are reported. Major clinical findings of this syndrome include a characteristic pattern of facial dysmorphisms, cleft palate, cardio-vascular malformations, and (mostly mild-to-moderate) mental retardation or learning difficulties. The syndrome probably is caused by a dominant gene with very variable expression. From previous reports mostly ascertained from cardio-vascular or cleft palate clinics, the incidence of cleft palate and heart defects was calculated to be 98% and 82%, respectively. Out of eight patients of this study who were diagnosed mainly through their pattern of facial dysmorphisms, only two and four had clefts and heart defects, respectively, further demonstrating the variability in the expression of this gene. Similarly, mental retardation, noted in 100% of previous publications, was not present in all of our patients. In two instances, examination of the mother revealed that she probably carried the mutant gene, but that she showed a milder clinical expression than the index patient. It is suggested that careful family investigations should be performed following detection of an index patient, and that the rate of fresh mutations might be not as high as previously assumed.

Abnormalities, Multiple↗
PubMed1984

Developmental delays in Williams ("Elfin facies") syndrome.

This study reports the results of psychological and physical characteristics of seven children with Williams syndrome. All subjects were found to be borderline to severely mentally retarded. The previously reported pattern of superior verbal abilities over motor abilities was not supported, nor was there any evidence of an "unusual command" of language, usually considered a marker of the syndrome. The early development profiles of these children are important for parental counseling and planning of early intervention stimulation programs.

Aortic Valve Stenosis↗
PubMed1984

Familial 5p- syndrome.

This report concerns a mother and son with a small terminal deletion of the short arm of chromosome 5 (del(5)(qter----p15.1:). Both mother and son had superficial resemblance to patients with classical Cri-du-Chat Syndrome, but lacked the severe mental and growth retardation generally associated with such cases.

Adult↗