Diagnosis of tetrasomy 18p using in situ hybridization of a DNA probe to metaphase chromosomes.

We identified an isochromosome of 18p [47,XY, +i(18p)] conclusively by in situ hybridization of an 18p-specific probe (B74; D18S3) to metaphase chromosomes of an affected patient. Clinical findings included mental retardation, microcephaly, and an atrial septal defect. Although there is similarity to patients previously described with tetrasomy 18p, it is impossible to rule out a low frequency of misdiagnoses in karyotypes determined solely by standard cytogenetic analyses. We expect the ability to conclusively identify an i(18p) to lead to the delineation of tetrasomy 18p as a distinct clinical syndrome.

Assessment of developmental time periods and risks of brain damage in the fetus and neonate.

The life cycles of 18 infants with neurologic morbidity were divided into antepartum, intrapartum, neonatal and infant time periods. Specific events related to risks for each infant were assigned to these periods. In almost all the children multiple, rather than single, fetal, neonatal and infant risks were found, and along with the multiple risks, multiple time periods were found during which the risks occurred. It is difficult, and often impossible, to relate infant neurologic morbidity to a single event or time period.

Comprehensive management of arthrogryposis multiplex congenita.

Arthrogryposis multiplex congenita syndrome, characterized by multiple congenital joint contractures, is a manifestation of a neurogenic or myopathic disorder of unknown etiology. An accurate diagnosis is critical in management strategy. Muscle biopsy is usually the most important diagnostic procedure. Once the diagnosis is established, a team approach to comprehensive care is instituted, and the child is assisted in achieving maximum cognitive, physical, and social development. Physicians, nurse clinicians, therapists, social workers, and others constitute the team and work in coordination to develop an individual habilitation plan. The treatment plan is continually updated and modified as needed. Because the musculoskeletal deformities are generally the most prominent abnormality, the orthopedist usually has the major role in management. The orthopedist may serve as coordinator of the comprehensive care team and therefore must have a fundamental understanding of and global approach to management.

Long-term neurological morbidity in breech and vertex births.

Seventy frank breech fetuses delivered vaginally, alive at the onset of labor, and without major congenital anomalies were matched by birth weight and race with a breech infant born by cesarean section, a vertex infant born vaginally, and a vertex infant born by cesarean section. Long-term neurological abnormality was determined from time of hospital discharge through a minimum of 2 years of age. The results document the absence of significant differences with respect to major brain damage effected by birth route changes for breech fetuses and between the entire breech and vertex populations.

Spontaneous atlantoaxial subluxation as a presenting manifestation of juvenile ankylosing spondylitis. A case report.

Juvenile-onset ankylosing spondylitis is an unusual disorder which can present with either peripheral arthritis or with more classic hip girdle and back symptoms. Atlantoaxial instability has been recognized as a late complication in only one patient and has not been reported as an early manifestation. This paper presents a case in which atlantoaxial instability and neck pain without neurologic involvement was a presenting manifestation. The laboratory and clinical features of juvenile ankylosing spondylitis are discussed, along with the importance of qualitative sacroiliac joint scintigraphy in the diagnosis of early or confusing cases.