Subject(s)
Abnormalities, Multiple/diagnosis , Arm/abnormalities , Cardiovascular Abnormalities/diagnosis , Child , Child, Preschool , Humans , Male , SyndromeABSTRACT
No disponible
Subject(s)
Child , Child, Preschool , Humans , Male , Abnormalities, Multiple , Arm , Cardiovascular Abnormalities , Syndrome , Abnormalities, MultipleABSTRACT
We describe 5 Spanish children with Kabuki make-up syndrome (KMS)-3 females and 2 males-identified in Badajoz, Spain, between 1988 and 1990. All had the characteristic clinical and radiological manifestations of the syndrome. Psychomotor/mental retardation, postnatal growth deficiency, distinctive facial appearance, sagittal vertebral clefts, and dermatoglyphic abnormalities were present in all 5. Congenital heart defects were present in 4 patients. In addition, one had myopia, astigmatism, and bilateral paralysis of the VI cranial nerve. Another had apparent fusion of the hamate and capitate. An additional patient, as well as his mother, had an apparently balanced 15/17 translocation [46,XY,t(15;17) (15q;21q)]. The fact that these patients were ascertained in a catchment area of approximately 250,000 inhabitants and in a relatively limited period of time suggests that the prevalence of the KMS may be higher than previously recognized.
Subject(s)
Abnormalities, Multiple/genetics , Face/abnormalities , Hand Deformities, Congenital/genetics , Heart Defects, Congenital/genetics , Intellectual Disability/genetics , Abnormalities, Multiple/epidemiology , Adult , Catchment Area, Health , Child, Preschool , Chromosome Aberrations/genetics , Chromosome Disorders , Chromosomes, Human, Pair 15/ultrastructure , Chromosomes, Human, Pair 17/ultrastructure , Dermatoglyphics , Female , Humans , Infant, Newborn , Male , Middle Aged , Pedigree , Prevalence , Spain/epidemiology , Syndrome , Translocation, GeneticABSTRACT
The unilateral testicular torsion reflects in a negative manner on the contralateral testis. With the objective of proving if these alterations can be avoided, we used two groups of rats. The problem group was subjected to torsion with posterior orchiectomy. The control of spermatozoon we found significant differences for the spermatozoon with bigger motility. These results are from different from those obtained in animals submitted to testicular torsion with posterior distortion leaving the testis twisted. We think the orchiectomy has a prophylactic value upon the perturbation in the contralateral testis.
Subject(s)
Orchiectomy , Spermatic Cord Torsion/surgery , Testis/physiology , Animals , Male , Rats , Rats, Inbred Strains , Sperm Count , Sperm MotilityABSTRACT
A case of hydrops fetalis and congenital pulmonary lymphangiectasis due to hypoplastic left heart syndrome with intact atrial septum is reported. Authors analyse hydrops and lymphangiectasis physiology in relation to cardiac defect, besides the present day therapeutics possibilities. Patient died four hours after birth.
