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Biomedical subjects

D B Flannery

Publications and source records attributed to D B Flannery.

At least 19 recordsLinked to original sources
PubMed1989

3-M syndrome.

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Bone Diseases, Developmental↗
PubMed1989

Hypertrichosis cubiti.

Hypertrichosis is an unusual but well-recognized genetic condition. Hypertrichosis may be generalized or limited to specific body areas, in which case it is usually not associated with other anomalies. Five previous cases of hypertrichosis cubiti have been reported, with short stature in 2 sibs being the only other associated abnormalities. We report on a child with hairy elbows, developmental delay, facial asymmetry, and delayed speech with normal parents. Our patient may represent severe expression of the hairy elbow syndrome or constitute a previously unrecognized syndrome.

Child, Preschool↗
PubMed1989

Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism.

We have evaluated eight patients with pigmentary anomalies reminiscent of incontinentia pigmenti or hypomelanosis of Ito. All demonstrated abnormal lymphocyte karyotypes with chromosomal mosaicism in lymphocytes and/or skin fibroblasts. In seven the skin was darkly pigmented, and in all of these seven cases the abnormal pigmentation followed Blaschko lines. The literature contains at least 36 similar examples of an association between pigmentary anomalies and chromosomal mosaicism, as well as five examples of an association with chimerism. The pigmentary anomalies are pleomorphic, and the chromosomal anomalies involve autosomes and sex chromosomes. The pigmentation patterns are reminiscent of the archetypal paradigm seen in allophenic mice and demonstrate the clonal origin of melanoblasts from neural crest precursors. Patients with anomalous skin pigmentation, particularly when it follows a pattern of Blaschko lines, should be appropriately evaluated for a possible association with chromosomal or genetic mosaicism or chimerism.

Adolescent↗
PubMed1988

Verification of the fetal valproate syndrome phenotype.

We have evaluated 19 children who were exposed to valproic acid (VPA) in utero to look for manifestations of a fetal valproate syndrome (FVS), as proposed by Di Liberti et al. [1984]. We found no consistent alterations of pre- or postnatal growth with exposure to VPA monotherapy. Postnatal growth deficiency and microcephaly were present however, in two thirds of children exposed to VPA in combination with other anticonvulsants. Developmental delay or neurologic abnormality was found in 71% of those exposed to VPA monotherapy, and in 90% of those exposed to VPA and other anticonvulsants. Craniofacial anomalies, which can be seen with other anticonvulsant exposures, including midface hypoplasia, short nose with a broad and/or flat bridge, epicanthal folds, minor abnormalities of the ear, philtrum or lip, and micrognathia were also found in infants whose mothers used VPA. Prominent metopic ridge and outer orbital ridge deficiency or bifrontal narrowing and certain major anomalies such as tracheomalacia, talipes equinovarus (with intact spine) and lumbosacral meningomyelocele seem to be peculiar to infants with VPA exposure. Other defects such as urogenital anomalies, inguinal or umbilical hernias, and minor digital anomalies that are common to other prenatal anticonvulsant exposures are also occasionally found in those exposed to VPA. Heart defects have been found in infants exposed to nearly every class of anticonvulsant although the types of defects associated with maternal VPA use may be clarified when classified by pathogenetic mechanism. Our findings overall are in agreement with the report of Di Liberti et al. [1984].

Abnormalities, Drug-Induced↗
PubMed1988

Ring chromosome 5.

A case of an infant with ring chromosome 5 is presented. The phenotype of this patient and other reported cases is analyzed with respect to the deletion of the long arm of chromosome 5.

Abnormalities, Multiple↗
PubMed1988

Joubert syndrome: early diagnosis by recognition of the behavioral phenotype and confirmation by cranial sonography.

Our experience with two children with Joubert syndrome demonstrates how the diagnosis, if suspected by recognition of the behavioral phenotype, can rapidly be made by employing cranial sonography. This technique also may afford prenatal diagnosis of the syndrome in future siblings of confirmed cases. We have produced an educational videotape demonstrating the dynamic behavior of these patients. It is our hope that increased familiarity with the behavior phenotype through this report and through distribution of the videotape will lead to early and accurate diagnosis of further cases of this syndrome.

Animals↗
PubMed1986

Craniofrontonasal dysplasia: clinical and genetic analysis.

We have identified a case of craniofrontonasal dysplasia which demonstrates the potential lethality of this gene. Genetic analysis of this pedigree and nine others reveals that craniofrontonasal dysplasia does not follow a Mendelian mode of inheritance and may be a human mutation analogous to the T-locus of mice.

Abnormalities, Multiple↗
PubMed1986

Association of low blood manganese concentrations with epilepsy.

A comparison of hospitalized epileptic patients with matched normals showed that the mean whole blood manganese (Mn) concentration of the epileptic population was significantly lower than the mean of the normal population. The whole blood Mn concentration in the epileptics did not correlate either with seizure frequency or with anticonvulsant therapy. It was observed, however, that patients whose epilepsy was a result of trauma had significantly higher blood Mn concentrations than patients whose history was negative for trauma.

Adolescent↗