Subject(s)
Eclampsia/diagnosis , Puerperal Disorders/diagnosis , Adolescent , Female , Headache/etiology , Humans , Pregnancy , Proteinuria/etiology , Seizures/etiologySubject(s)
Head and Neck Neoplasms/diagnosis , Infant, Newborn, Diseases/diagnosis , Teratoma/diagnosis , Facial Neoplasms/congenital , Facial Neoplasms/diagnosis , Facial Neoplasms/diagnostic imaging , Fatal Outcome , Female , Head and Neck Neoplasms/congenital , Head and Neck Neoplasms/diagnostic imaging , Humans , Infant, Newborn , Infant, Newborn, Diseases/diagnostic imaging , Infant, Newborn, Diseases/etiology , Male , Pregnancy , Pregnancy Complications, Neoplastic/diagnosis , Pregnancy Complications, Neoplastic/diagnostic imaging , Pregnancy Trimester, Third , Radiography , Teratoma/congenital , Teratoma/diagnostic imaging , Ultrasonography, PrenatalSubject(s)
Peritonitis, Tuberculous/diagnosis , Adult , Diagnosis, Differential , Female , Humans , Middle Aged , Ovarian Neoplasms/diagnosisABSTRACT
AIM: Reppor of a rare congenital abnormalities. OBSERVATION: We report a rare case of Pallister-Killian syndrome in a 33 weeks gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia and sacral appendage. These additional manifestations are not among the Pallister-Killian syndrome's features. The diagnosis was made in antenatal period by cytogenetic studies and showed mosaic 47, XY+i (12p). Presence of diaphragmatic hernia makes this syndrome, prenatally letal, similar to the Fryns syndrome and then requires skin biopsy and fibroblast chromosome examination for cytogenetic diagnosis.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations , Cleft Palate/genetics , Hernias, Diaphragmatic, Congenital , Infant, Premature, Diseases/genetics , Sacrum/abnormalities , Apgar Score , Fatal Outcome , Humans , Infant, Newborn , Infant, Premature , Karyotyping , Male , Mosaicism , Phenotype , SyndromeABSTRACT
BACKGROUND: adenomyosis is a frequent gynecologic pathology which affects women particularly in the fifth decade. It is responsible of abnormal uterine bleeding and pelvic pain. The diagnosis can be difficult especially when it's associated to other gynaecologic pathologies. Contribution of transvaginal sonography and magnetic resonance imaging made preoperative diagnosis possible. THE AIM of this study is to report frequency, epidemiologic profile, clinical signs and diagnostic and therapeutic methods of adenomyosis. METHODS: this is a retrospective study about 52 cases of adenomyosis diagnosed upon 336 hysterectomies for benign pathologies. Descriptive analysis of epidemiologic, clinical, diagnosis and therapeutic data was performed. RESULTS: prevalence of adenomyosis was 15% and multiparity observed for 90% of women was the main risk factor. CONCLUSION: women desirous of pregnancy and affected by adenomyosis can benefit from conservative treatment, but hysterectomy remains the reference treatment.