ABSTRACT
We present a male patient with a facial haemangioma extending from the lower left lid to the malar region and the upper left lip. The patient also presents a 1 cm round cutaneous notch on the upper third of the sternum. There are not other physical anomalies. The characteristics of the clinical picture suggest the diagnosis of sternal cleft-haemangiomas malformative spectrum (OMIM 140850).
Subject(s)
Abnormalities, Multiple/pathology , Facial Neoplasms/congenital , Hemangioma, Cavernous/congenital , Sternum/abnormalities , Abnormalities, Multiple/classification , Humans , Infant, Newborn , Male , SyndromeABSTRACT
Achondroplasia and trisomy 21 are, within their respective categories, conditions the most frequent genetic diseases found in newborns. The simultaneous presence of both conditions in the same patient, has been however, reported only once in the world literature. In this paper we present a patient affected by both entities (Achondroplasia and Trisomy 21). The clinical findings and the reasons for the rare reported frequency of these cases are discussed.
Subject(s)
Achondroplasia/complications , Down Syndrome/complications , Achondroplasia/diagnostic imaging , Achondroplasia/genetics , Chromosomes, Human, Pair 21/genetics , Chromosomes, Human, Pair 4/genetics , Down Syndrome/genetics , Fatal Outcome , Humans , Infant, Newborn , Karyotyping , Male , Radiography , Sudden Infant DeathABSTRACT
We compared the effects of extinction (EXT) and fixed-time (FT) schedules as treatment for severe problem behavior displayed by 3 individuals with developmental disabilities. First, functional analyses identified the reinforcers maintaining aberrant behavior for all 3 individuals. Next, EXT and FT schedules were compared using a multielement design. During EXT, the reinforcer maintaining problem behavior was withheld. During FT, the reinforcers were presented response independently at preset intervals. Results showed that FT schedules were generally more effective than EXT schedules in reducing aberrant behavior. FT schedules may be used in situations when extinction-induced phenomena are problematic.
Subject(s)
Extinction, Psychological , Reinforcement Schedule , Self-Injurious Behavior/diagnosis , Self-Injurious Behavior/therapy , Adult , Female , Humans , Intellectual Disability/complications , Psychotherapy/methods , Reinforcement, Psychology , Self-Injurious Behavior/complications , Severity of Illness IndexABSTRACT
We report two brothers from non-consanguineous parents who share a particular constellation of clinical and radiographic findings, including macrocephaly, mental retardation and seizures as well as megalencephaly, cavum septum pellucidum and persistence of cavum vergae. The similar characteristics of these two brothers suggest a hereditary syndrome.
