ABSTRACT
A 27-year-old female is described with Klippel-Feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum. Other anomalies occurring with Klippel-Feil syndrome are discussed.
Subject(s)
Klippel-Feil Syndrome/pathology , Adult , Female , HumansABSTRACT
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.
Subject(s)
Williams Syndrome/diagnosis , Cardiovascular Diseases/diagnosis , Child, Preschool , Chromosome Aberrations/genetics , Chromosome Disorders , Chromosomes, Human, Pair 7/genetics , Hemodynamics , Humans , Male , Williams Syndrome/geneticsABSTRACT
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.
Subject(s)
Melanosis/complications , Pigmentation Disorders/complications , Port-Wine Stain/complications , Child , Eye/physiopathology , Female , Humans , Melanosis/physiopathology , PhenotypeABSTRACT
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.
