Pregnancy in a woman with the Brachmann‐de Lange syndrome

Abstract

We present the first reported pregnancy in a woman with the Brachmann-de Lange syndrome. This 24-year-old primagravid woman was originally seen at 13 weeks of pregnancy with manifestations consistent with this diagnosis. High-resolution chromosome studies, performed on lymphocytes, showed a normal 46,XX chromosome constitution. Because of the stage of pregnancy at which she presented, a genetic amniocentesis was simultaneously performed for chromosome analysis on the fetal cells, which were also normal (46,XX). The uncomplicated pregnancy was monitored carefully and at 37 1/2 weeks of gestation she delivered a clinically normal-appearing female infant.

Mild mental retardation with classic somatic phenotype in the Brachmann‐de Lange syndrome

“…These 4 individuals had minimal, if any, growth deficiency and hence, have a mild somatic phenotype. Similarly, among the 13 additional case reports of high-functioning BDLS patients (Brylewski, 1978;Cameron and Kelly, 1988;Cherington et al 1969;Filippi, 1989;Godath, 1982;Greenberg and Robinson, 1989;Leavitt et al 1985;McIntire and Eisen, 1965;Mosher et al 1985;Pashayan et al 1969;Robinson et al 19851, only the adult male with I& 83 reported by Cherington et al (1969) had global growth deficiency at more than 3 S.D. below the mean.…”

Familial Brachmann‐de Lange syndrome: Further evidence for autosomal dominant inheritance and review of the literature

“…Although our patients did not have severe mental retardation and limb reduction defects, or a classic facial appearance for BDLS, the diagnosis is supported by the mild cognitive impairment, marked short stature, suggestive facial appearance, brachydactyly and 5th finger clinodactyly with hypoplasia of the middle phalanx (more striking in the mother). Mosher et al [1985] reported on a family in which a woman had mild BDLS whose father had mental retardation without other anomalies. Reports of affected sibs and cousins supporting autosomal recessive inheritance are presented in Table I.…”

The Brachmann‐de Lange syndrome in two siblings of normal parents

“…As cited in the introduction, familial occurrence of BDLS has been rarely reported. Autosomal dominant inheritance has been suggested in at least three reports (Robinson et al 1985, Mosher et al 1985, Leavitt et al 1985. In these, a mildly affected parent had one or more severely affected children with manifestations of BDLS.…”

“…At the present time, a number of authors have suggested that at least some cases are inherited as an autosomal dominant (Robinson et al 1985, Mosher et al 1985, Leavitt et al 1985. A few examples are known of sib occurrence of BDLS with normal parents ( Beck 1974, Breslau et al 1981, Lieber et al 1973, and affected first and third cousins were reported by Preus & Rex (1983) and Opitz (1985).…”