ABSTRACT
We report the familial occurrence of diaphragmatic agenesis in association with other midline anomalies in a brother and sister. Opitz and Gilbert [Am J Med Genet 1982, 12:443-455] introduced the concept of the midline as a developmental field, and there have been reports of pedigrees compatible with the hypothesis of an X-linked gene regulating the development of the midline. This family suggests that an autosomal gene also contributes to the morphogenesis of midline structures.
Subject(s)
Abnormalities, Multiple/genetics , Diaphragm/abnormalities , Morphogenesis/genetics , Anus, Imperforate/genetics , Cleft Palate/genetics , Encephalocele/genetics , Female , Hernia, Umbilical/genetics , Humans , Male , Neural Tube Defects/genetics , PedigreeABSTRACT
A case of papillary carcinoma of the thyroid gland identified by needle aspiration cytology is presented, and correlation between the ultrastructure of the cytologic material and the neoplastic tissue is emphasized. Needle aspiration is recommended for diagnosis of thyroid gland lesions and may allow, without significant risk to the patient, establishment of a specific preoperative diagnosis.
