Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome?

Clinical Dysmorphology
W DelbWolfram Henn

Abstract

We report two brothers who presented with mandibulofacial dysostosis, growth retardation, microcephaly, thoracic deformities and conductive hearing loss along with asplenia in one case and aplasia of the gallbladder in the other. The pattern of malformations differs significantly from established syndromes with mandibulofacial dysostosis such as Nager syndrome or Genée-Wiedemann syndrome and also from cerebro-costo-mandibular syndrome. As chromosome analysis revealed normal male karyotypes, we consider this to be a distinct heritable syndrome that may be either autosomal recessive or X-chromosomal recessive.

References

Oct 1, 1977·American Journal of Ophthalmology·G B Krohel, C R Wirth
Oct 1, 1991·American Journal of Medical Genetics·A S AylsworthP A Friedman
Jul 1, 1988·American Journal of Medical Genetics·D J Goldstein, L D Mirkin
Aug 1, 1985·American Journal of Medical Genetics·C M KraussD L Gang
May 1, 1985·American Journal of Medical Genetics·H V TorielloW D Moore
Oct 1, 1985·Journal of Medical Genetics·E ThompsonM Baraitser
Jun 1, 1983·American Journal of Medical Genetics·R A Pfeiffer, H Stoess
May 8, 1998·Clinical Dysmorphology·J J van den EndeB C Hamel
Dec 1, 1964·Journal of Medical Genetics·T J PATTERSON, A C STEVENSON

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Citations

May 11, 2002·Clinical Dysmorphology·Ratna Dua Puri, Shubha R Phadke
Apr 14, 2007·American Journal of Medical Genetics. Part a·David A StevensonSarah T South

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