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Biomedical subjects

P Cincinnati

Publications and source records attributed to P Cincinnati.

12 recordsLinked to original sources
PubMed2000

Dandy-Walker anomaly in Meckel-Gruber syndrome.

We report a fetus affected by Meckel-Gruber syndrome whose phenotype was characterized by macrocephaly, frontal bossing, a saddle nose, marked micrognathia, a distended abdomen, omphalocele, post-axial polydactyly and talipes equinovarus. The main neuropathological finding at autopsy was in a very large cyst located in an abnormally wide posterior cranial fossa consistent with a Dandy-Walker anomaly. Intestinal malrotation, enlarged cystic dysplastic kidneys and hepatic portal fibrosis coexisted. The occurrence of a Dandy-Walker malformation in Meckel-Gruber syndrome confirms a disturbance in rhombencephalon development. Although uncommon, it should be included among the central nervous anomalies representative of the syndrome.

Abnormalities, Multiple↗
PubMed1998

[Williams syndrome without cardiovascular abnormalities].

In a patient with facial dysmorphic traits, growth deficiency, mental retardation but without cardiovascular anomalies, detection of hemizygosity at the elastin locus by FISH analysis confirmed diagnosis of Williams Syndrome (WS). To date, cardiovascular pathology in WS is thought to be the result of a localized response of inelastic vessels to haemodynamic stress in fetal life. Patients with deletion at the elastin locus and no cardiovascular defects suggest that genetic aspects other than hemizygosity must be investigated, such as transcriptional regulation of the elastin gene expression. Moreover, a complete characterization of the region commonly deleted in 7q11.23 is needed before excluding other genes as responsible for the cardiovascular defects. Clinical investigations are requested for selecting patients with partial phenotype, various degrees of tissue damage and different evolution at follow-up.

Cardiovascular Diseases↗
PubMed1996

[Phakomatosis pigmentovascularis ].

A case of phakomatosis pigmentovascularis type IIa in a, short stature, 6-year old girl with nevus flammeus of the face and palate, bilateral ocular melanosis, aberrant mongolian spots and minor dysmorphic traits is reported. The patient has been considered at risk for glaucoma and ocular melanoma and an ophthalmologic follow-up including a tonometry is yearly requested. Phakomatosis Pigmentovascularis (PP) is a rare disease characterized by coexistence of capillary hemangioma and pigment abnormalities. The authors review the literature and discuss clinical features which actually allow the distinction of PP into 4 types. The opportunity of a follow-up specifically planned on the patient's phenotype is emphasized.

Child↗
PubMed1994

[Aarskog syndrome. A case report].

A case of Aarskog syndrome in a 10-year-old boy born to an epileptic woman is reported. Clinical features and genetics of the condition are reviewed. An underestimated incidence of the syndrome related to its mild phenotypical appearance is suggested. Finally the association between Aarskog syndrome and maternal epilepsy is discussed.

Abnormalities, Multiple↗