MILD BRACHMANN-DELANGE SYNDROME - DELINEATION OF THE CLINICAL PHENOTYPE, AND CHARACTERISTIC BEHAVIORS IN A 6-YEAR-OLD BOY

Brachmann-de Lange syndrome (BDLS) is a rare multiple congenital anoma ly/mental retardation (MCA/MR) syndrome with variable expression, maki ng diagnosis of mild cases difficult. The most consistent manifestatio ns appear to be the characteristic face, which can be subtle in childr en who are mildly affected [Ireland and Burn, 1991: Twelfth Annual Dav id W. Smith Workshop on Malformations and Morphogenesis]. Other aspect s of the syndrome include variable degrees of mental retardation, grow th retardation, structural abnormalities of the limbs, and behavior ab normalities, noted to be ''autistic'' [Jones, 1988: ''Smith's recogniz able patterns of human malformation'']. Johnson et al. [1976: Pediatr Res 10:843-8501 described a behavior phenotype felt to be common in pa tients with BDLS. They predicted that patients with BDLS may respond t o ''behavioral intervention''. Other behavior abnormalities in BDLS ha ve been reported [Barr et al., 1971: Neuropadiatrie 3:46-66; Hawley et al., 1985: Am J Med Genet 20:453-459]. We report on a 6-year-old boy with the facial characteristics of BDLS, normal birth weight, prenatal onset of a small head relative to length, postnatal onset growth defi ciency, nearly normal psychomotor development with onset of clear deve lopmental delays by 2 years. He developed behavior problems similar to those seen in other patients with BDLS. These behaviors are most cons istent with Pervasive Development Disorder-NOS (PDD), and Autistic Dis order [DSM-III-R, 1987] which encompasses a spectrum of mild to severe autistic behaviors. We report successful in-patient care utilizing me dical and behavioral techniques to reduce the frequency of the behavio rs. We feel that the presence of the characteristic behaviors may be h elpful in confirming the diagnosis of BDLS. (C) 1993 Wiley-Liss, Inc.