The diagnostic management of newborns with congenital contractures: a nosologic study of 75 cases.
A prospective clinical study is presented of 75 patients with multiple congenital contractures. With the data from medical history, child neurologic examinations, laboratory tests including chromosome and dermatoglyphic analysis, and neuropathology in 23 cases with perinatal death, a nosological or syndromal diagnosis was made in 61 cases. These cases were classified by localization of causal pathology in the categories "cerebral dysgenesis", spinal cord defects, neuromuscular disorders and miscellaneous disorders without muscle weakness. Following this concept, the various modes of inheritance of specific disorders presenting with congenital contractures, as well as possibilities for prenatal diagnosis by ultrasonography are discussed. A guideline for the child neurologic evaluation of infants with congenital contractures is proposed. It is concluded that: 1) specification of the causal lesion and proper classification of disorders with congenital contractures is crucial for genetic counseling, (prenatal) diagnosis and management; 2) the analysis of dermatoglyphics in differential diagnosis of congenital contractures should be restudied; and 3) more study and experience is required in the observation of abnormal or decreased fetal movements by ultrasonography.
Hageman
G
G
Department of Child Neurology, University Hospital AZU, Utrecht, The Netherlands.
Ippel
E P
EP
Beemer
F A
FA
de Pater
J M
JM
Lindhout
D
D
Willemse
J
J
D001921:Brain / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D003286:Contracture / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D003878:Dermatoglyphics; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009468:Neuromuscular Diseases / Q000151:congenital; D011296:Prenatal Diagnosis; D011446:Prospective Studies; D013116:Spinal Cord / Q000002:abnormalities