ABSTRACT
A marginal illustration of a non-ambulatory child in the 14th Century Luttrell Psalter is the earliest currently identifiable image of an individual with Split Hand Split Foot with Long Bone Deficiency (SHFLD). Changes in portrayal of SHFLD over the centuries reflect changes in social perception of disabilities from pious sympathy to scientific curiosity and unfortunately also morbid fascination. Hopefully understanding of the past attitudes toward split hand and foot as reflected in art can help in moving toward acceptance of individuals with this highly visible malformation.
Subject(s)
Foot Deformities, Congenital , Hand Deformities, Congenital , Limb Deformities, Congenital , Child , Human Characteristics , Humans , Male , TibiaABSTRACT
BACKGROUND: Although autopsy is a key component of the etiologic evaluation following fetal and early neonatal death, and traditionally has been the preferred method to determine the cause of death, an alternative may be suitable when traditional autopsy by a perinatal pathologist is not available or declined. METHODS: Among 3137 cases evaluated through the Wisconsin Stillbirth Service Program (WiSSP), a community-based program for etiologic evaluation of second trimester miscarriage, stillbirth, and early neonatal death, most diagnoses are based on multiple types of data including placental pathology, clinical examination, photographs, maternal records, radiographs, and laboratory testing. RESULTS: Cases in the WiSSP cohort without autopsy have nearly the same overall rate of diagnosis as those with traditional autopsy (56% vs. 58%). Review of the literature shows that although recent systematic protocols including autopsy, placental pathology and genetic studies yield a definite or probable diagnosis in 70% or more, both healthcare providers and families desire less invasive options. Several minimally invasive protocols substituting imaging, primarily MRI, for traditional autopsy have been proposed, but the numbers of deaths evaluated are still very small. CONCLUSION: We join others who have promoted the benefits of a targeted or less invasive protocol to study perinatal deaths, and emphasize integration of clinical data, selective imaging, genetic testing, and parental counseling. Birth Defects Research 109:1430-1441, 2017.© 2017 Wiley Periodicals, Inc.
Subject(s)
Autopsy/methods , Fetal Death/etiology , Stillbirth/epidemiology , Cause of Death , Death , Female , Fetus/pathology , Humans , Infant, Newborn , Magnetic Resonance Imaging/methods , Parturition , Perinatal Death/etiology , Placenta/pathology , Pregnancy , Prenatal Care , WisconsinABSTRACT
Cardiovascular abnormalities, especially structural congenital heart defects, commonly occur in malformation syndromes and genetic disorders. Individuals with syndromes comprise a significant proportion of those affected with selected congenital heart defects such as complete atrioventricular canal, interrupted arch type B, supravalvar aortic stenosis, and pulmonary stenosis. As these individuals age, they contribute to the growing population of adults with special health care needs. Although most will require longterm cardiology follow-up, primary care providers, geneticists, and other specialists should be aware of (1) the type and frequency of cardiovascular abnormalities, (2) the range of clinical outcomes, and (3) guidelines for prospective management and treatment of potential complications. This article reviews fundamental genetic, cardiac, medical, and reproductive issues associated with common genetic syndromes that are frequently associated with a cardiovascular abnormality. New data are also provided about the cardiac status of adults with a 22q11.2 deletion and with Down syndrome.
