ABSTRACT
The physical, radiographic, and pathologic findings in 3 new patients with Marden-Walker syndrome (MWS) are compared with those of previously described children with the syndrome. Over 75% of the children with MWS have blepharophimosis, psychomotor retardation, small mouth, micrognathia, kyphosis/scoliosis, and multiple contractures. Minimal diagnostic criteria have yet to be defined attesting to the broad range of variability and potential genetic heterogeneity in this disorder.
Subject(s)
Abnormalities, Multiple/genetics , Blepharophimosis/genetics , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/pathology , Child, Preschool , Contracture/genetics , Developmental Disabilities/genetics , Face/abnormalities , Humans , Infant , Male , Micrognathism/genetics , Phenotype , SyndromeABSTRACT
The ethical and clinical dimensions of strabismus surgery in a case of an infant with mucolipidosis type II are discussed. Three sets of considerations are relevant to the decision of performing such surgery: professional obligations to protect patients from futile or contraindicated treatment; parental authority to assess the risks and benefits for elective pediatric care; and the role of the family as patient. We argue that, when weighed together in the context of this case, these considerations can support a decision to perform the surgery upon parental request, despite the patient's poor prognosis.
Subject(s)
Esotropia/surgery , Mucopolysaccharidosis II , Oculomotor Muscles/surgery , Patient Selection , Risk Assessment , Withholding Treatment , Beneficence , Ethics, Medical , Female , Humans , Infant , Moral Obligations , Physician-Patient Relations , PrognosisABSTRACT
We report a mother and son with a deletion at 18q22.3. Both have the typical manifestations of the 18q- syndrome. In addition, both have an action tremor which became apparent in childhood. The mother subsequently developed chorea and dysmetria in late adolescence. Magnetic resonance imaging of their brains showed poor myelination of the central white matter tracts with relatively normal myelination of the corpus callosum. We propose that these neurologic findings are most likely due to a failure of expression of the myelin basic protein gene.
Subject(s)
Abnormalities, Multiple/genetics , Brain/abnormalities , Chromosome Deletion , Chromosomes, Human, Pair 18 , Adult , Brain/pathology , Ear/abnormalities , Female , Humans , Infant , Magnetic Resonance Imaging , Male , Myelin Basic Protein/genetics , Tremor/geneticsSubject(s)
Education, Medical , Fundus Oculi , Manikins , Models, Anatomic , Vision Tests/methods , HumansABSTRACT
We report an infant with del(2)(q31q33). His phenotype is compared with those of the 7 children reported previously with the apparently identical deletion. Nine cases of deletions involving other segments of chromosome 2q are reviewed. Common manifestations of the 2 groups include small size at birth, growth and developmental retardation, cardiovascular malformation, microcephaly, and cleft palate.
