Radiological features in Brachmann-de Lange syndrome

S. R. Braddock, R. S. Lachman, C. C. Stoppenhagen, J. C. Carey, M. Ireland, J. B. Moeschler, Christopher M Cunniff, J. M. Graham

Research output: Contribution to journalArticle

31 Citations (Scopus)

Abstract

Brachmann-de Lange syndrome (BDLS) is a well-delineated disorder consisting variably of pre- and postnatal growth deficiency, microbrachycephaly, characteristic face, hypertrichosis, visceral anomalies, and limb defects consisting primarily of variable limb reduction defects, micromelia, and elbow abnormalities. The course is usually marked by initial hypertonicity, low-pitched weak cry, feeding problems, and behavioral problems with marked mental deficiency. In classical cases there is rarely any difficulty in making the diagnosis, but for mildly affected cases, it may be difficult to feel secure about the diagnosis. In an effort to increase the precision of diagnosis for mildly affected cases, we reviewed roentgenograms in 21 cases of Brachmann-de Lange syndrome, as well as previously published descriptions of the radiological manifestations. Unusual radiologic manifestations were related primarily to the limb anomalies, and these were often asymmetric. These manifestations included digital abnormalities, which ranged from acheiria to oligodactyly, hypoplasia of the thumb and first metacarpal, clinodactyly of the fifth finger, or ectrodactyly. Long bone abnormalities included ulnar a/hypoplasia, dysplasia of the radial head, or fusion of the elbow. When there was a single forearm bone, there was often fusion at the elbow and oligodactyly, which made it difficult to determine whether the radius or ulna was absent. Other radiologic manifestations included 13 ribs with precocious sternal fusion, and micrognathia. We suggest that these radiologic manifestations could increase diagnostic precision in mildly affected cases.

Original languageEnglish (US)
Pages (from-to)1006-1013
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume47
Issue number7
DOIs
StatePublished - 1993
Externally publishedYes

Fingerprint

De Lange Syndrome
Elbow
Extremities
Micrognathism
Hypertrichosis
Bone and Bones
Ulna
Metacarpal Bones
Thumb
Ribs
Forearm
Intellectual Disability
Fingers
Growth

Keywords

  • Brachmann-de Lange syndrome
  • mental retardation
  • radiology

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Braddock, S. R., Lachman, R. S., Stoppenhagen, C. C., Carey, J. C., Ireland, M., Moeschler, J. B., ... Graham, J. M. (1993). Radiological features in Brachmann-de Lange syndrome. American Journal of Medical Genetics, 47(7), 1006-1013. https://doi.org/10.1002/ajmg.1320470714

Radiological features in Brachmann-de Lange syndrome. / Braddock, S. R.; Lachman, R. S.; Stoppenhagen, C. C.; Carey, J. C.; Ireland, M.; Moeschler, J. B.; Cunniff, Christopher M; Graham, J. M.

In: American Journal of Medical Genetics, Vol. 47, No. 7, 1993, p. 1006-1013.

Research output: Contribution to journalArticle

Braddock, SR, Lachman, RS, Stoppenhagen, CC, Carey, JC, Ireland, M, Moeschler, JB, Cunniff, CM & Graham, JM 1993, 'Radiological features in Brachmann-de Lange syndrome', American Journal of Medical Genetics, vol. 47, no. 7, pp. 1006-1013. https://doi.org/10.1002/ajmg.1320470714
Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB et al. Radiological features in Brachmann-de Lange syndrome. American Journal of Medical Genetics. 1993;47(7):1006-1013. https://doi.org/10.1002/ajmg.1320470714
Braddock, S. R. ; Lachman, R. S. ; Stoppenhagen, C. C. ; Carey, J. C. ; Ireland, M. ; Moeschler, J. B. ; Cunniff, Christopher M ; Graham, J. M. / Radiological features in Brachmann-de Lange syndrome. In: American Journal of Medical Genetics. 1993 ; Vol. 47, No. 7. pp. 1006-1013.
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