Neurologic and Psychometric Findings in the Brachmann-De Lange Syndrome

Abstract

Neurologic and psychometric findings in the Brachmann-de Lange-syndrome. Neuropadiatrie 3 : 46-66 (1971). A muiltidisciplinary investigation of the BRACHMANN-DE LANGE-syndrome (BDLS) reports neurologic, genetic, electroencephalographic, and psychometric data on 19 subjects. Although findings such as microbrachycephaly, broad-based and poor tandem gait, strabismus, nystagmus, tight heel cords, and dyssynergia of reach were common, there were no pathognomonic neurologic findings. Approximately 20%> of the patients had histories of a seizure disorder. IQ scores ranged from 4 to 85, and 8O°/o of the patients were severely or profoundly retarded. The four patient's with IQ levels that exceeded 35 had higher birth weights and higher total ridge counts than did the remaining patients. The two patients with head circumference equal to, or greather than, the second percentile for age and sex had IQ scores that substantially exceeded the group mean. In support of previous reports based on smaller numbers of subjects, the present study shows that the degree of associated mental retardation in patients with the BDLS is not necessarily severe and that the BDLS is compatible with survival into adulthood.Brachmann-de Lange-syndrome malformation syndrome mental retardation seizures and EEG abnormalities Detailed investigations of the cause of apparent neurologic disabilineuropsychologic manifestations of ties, mental retardation, and occasionthe BRACHMANN-DE LANGE-syndrome al behavioral disturbances in patients (BDLS) have not been reported to with the BDLS; at the same time, date. Neurologists, psychologists, and these consultants are impressed by the psychiatrists are at times consulted be-frequently striking additional mani-

Sixty‐four patients with Brachmann–de Lange syndrome: A survey

“…Our survey confirmed many of the findings previously documented in BDLS including absence of speech [Barr et al, 1971;Beck, 1976;Berg et al, 1970;Johnson et al, 19761, feeding [Barr et al, 1971;Beck, 1976;Begemen and Duggan, 19761 and behavioral p e r g et al, 1970;Johnson et al, 1976;Greenberg and Colesman, 19731 problems, and dental abnormalities [Barr et al, 1971, Begemen andDuggan, 1976;Berg et al, 19701. We also noted the presence of genital abnormalities in males and hearing loss.…”

Ophthalmologic Findings in the Cornelia de Lange Syndrome

“…[7][8]12,20,21 Thus, the syndrome also is referred to as Brachmann-de Lange, de Lange, and typus degenerativus amstelodamensis. The prevalence is estimated to be 0.6 to 10 in 100,000.…”

“…19,28 Other findings include congenital heart disease, cleft palate, hearing deficiency, poor verbal skills, and gastroesophageal reflux. 1,[5][6][7][8]12,15,17,20,24 However, other than the report by Levin and coworkers describing in detail the ophthalmic examination in 22 children, 26 only 3 other publications address the ocular anomalies associated with this syndrome. These 3 articles describe case reports of small numbers of children with partial eye examinations.…”

“…C ornelia de Lange recognized the pattern of abnormalities later to bear her name, [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19] but Brachmann probably described the syndrome 17 years earlier. [7][8]12,20,21 Thus, the syndrome also is referred to as Brachmann-de Lange, de Lange, and typus degenerativus amstelodamensis.…”

Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings

“…It is characterized by distinct features including prenatal and postnatal growth retardation, microcephaly, generalized hirsutism, limb abnormalities, severe mental retardation and characteristic facial features including synophrys, long eyelashes, depressed nasal bridge with an uptilted nasal tip, long philtrum, thin upper lip with downturned corners of the mouth, retrognathia and posteriorly rotated and low-set ears. Heart defects and other organ defects such as diaphragmatic hernia may also occur (Barr et al, 1971;Cunniff et al, 1993;Jackson et al, 1993;Allanson et al, 1997;Mehta et al, 1997;Del Campo et al, 1999). Almost all cases are the result of a new dominant mutation which occurred in the egg or sperm prior to conception with rare familial cases reported (Falek et al, 1966).…”