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Biomedical subjects

P E Podruch

Publications and source records attributed to P E Podruch.

10 recordsLinked to original sources
PubMed1989

A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation.

A female child with a terminal deletion on the long arm of chromosome 14, 46,XX,del(14)(q31.1), presented with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and a small haemangioma on the back. She was mildly mentally retarded. Only a few patients with a partial deletion of 14q (14q-) have been reported without consistent clinical findings. Although a clinical syndrome associated with ring chromosome 14, r(14), has been established, no distinct pattern has been so far reported in 14q-.

Adult↗
PubMed1986

Implications of large WISC/WISC-R Verbal-Performance IQ discrepancies.

Forty children with Verbal-Performance IQ discrepancies on the WISC/WISC-R were studied in regard to clinical findings on psychological, educational, speech-language, and medical evaluations. Significant delays in the development of verbal when compared to performance skills were observed frequently in this referred sample. The verbal deficits were mostly developmental in nature, rather than secondary to emotional or family background factors. These children's developmental difficulties were frequently complex ones that benefitted from multidisciplinary assessment and treatment planning. It was emphasized that future research in regard to these intellectual patterns should be conducted within the confines of more neuropsychologically oriented approaches.

Child↗
PubMed1985

Toluene embryopathy.

Three children with microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency were born to women who inhaled large quantities of pure toluene throughout pregnancy. The features in our patients were reminiscent of the patterns of malformation previously described following in utero exposure to alcohol, certain anticonvulsants, and hyperphenylalaninemia. It is possible that there is a variable and nonspecific teratogenic phenotype characterized by alterations in growth, development, and morphogenesis. Careful evaluation and monitoring of infants exposed to toluene in utero are needed to determine the significance of our findings.

Abnormalities, Drug-Induced↗
PubMed1983

Cognition in cerebral gigantism: are the estimates of mental retardation too high?

The psychological findings on 10 children with cerebral gigantism are reviewed. Infants with cerebral gigantism showed a consistent pattern of psychomotor delay. Preschool age children demonstrated signs of a primary language disorder, and school-age patients had learning disabilities. The incidence of mental retardation was significantly lower than previously reported in the literature. The possibility that some children with cerebral gigantism can be easily misdiagnosed as mentally retarded is discussed.

Child↗
PubMed1982

Yq- in a child with livedo reticularis, snub nose, microcephaly, and profound mental retardation.

A child with terminal deletion of the long arm of the Y chromosome (Yq--) presented with marked livedo reticularis, snub nose, microcephaly, short stature, and other dysmorphic features. He was profoundly mentally retarded. Most of the patients with Yq- have been reported as having varying dysmorphic features, mental retardation, and short stature. This child, in addition to the above, has livedo reticularis and microcephaly. He was of normal birthweight and, therefore, does not come into the syndrome of microcephaly, snub nose, livedo reticularis, and low birthweight dwarfism. Further information on Yq- should be obtained to ascertain if consistent patterns of abnormalities exist.

Body Height↗
PubMed1975

Oral-facial-digital syndrome. A family case report.

A familial case report of oral-facial-digital I syndrome affecting three generations is presented. The pedigree analysis substantiates that this syndrome is lethal for the male. The abnormal physical findings in the affected persons were predominantly associated with the oral structures. The need for early identification and diagnosis is imperative in the management of the affected females. This approach assists in the control of serious dental complications and allows for a professional overview of the growth and development of facial form. Also, supportive counseling acts as an aid in the control of emotional disturbances that can be associated with physical form and function. Since this syndrome is transmitted as an X-linked dominant affecting females, genetic counseling becomes a necessity in the care and management of the family and affected patients.

Abnormalities, Multiple↗
PubMed1975

Craniocarpotarsal dysplasia syndrome (whistling face syndrome). Case reports and survey of clinical findings.

Case histories of two patients with the whistling face syndrome are presented. The most striking features are microstomia, midface hypoplasia, scoliosis, and retarded growth. Family histories were unremarkable, except possibly in Patient K. B.'s family, where three miscarriages in six pregnancies were noted. Biochemical and chromosome analysis did not reveal obvious changes. The genetics implied a sporadic inheritance pattern.

Abnormalities, Multiple↗