Tags

Type your tag names separated by a space and hit enter

Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome?
Clin Dysmorphol. 2001 Apr; 10(2):105-9.CD

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.

Authors+Show Affiliations

Department of Otorhinolaryngology, Saarland University, Homburg/Saar, Germany. hnowdel@med-rz.uni-sb.deNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

11310989

Citation

Delb, W, et al. "Mandibulofacial Dysostosis, Microcephaly and Thorax Deformities in Two Brothers: a New Recessive Syndrome?" Clinical Dysmorphology, vol. 10, no. 2, 2001, pp. 105-9.
Delb W, Lipfert S, Henn W. Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome? Clin Dysmorphol. 2001;10(2):105-9.
Delb, W., Lipfert, S., & Henn, W. (2001). Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome? Clinical Dysmorphology, 10(2), 105-9.
Delb W, Lipfert S, Henn W. Mandibulofacial Dysostosis, Microcephaly and Thorax Deformities in Two Brothers: a New Recessive Syndrome. Clin Dysmorphol. 2001;10(2):105-9. PubMed PMID: 11310989.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome? AU - Delb,W, AU - Lipfert,S, AU - Henn,W, PY - 2001/4/20/pubmed PY - 2001/8/24/medline PY - 2001/4/20/entrez SP - 105 EP - 9 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 10 IS - 2 N2 - 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. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/11310989/Mandibulofacial_dysostosis_microcephaly_and_thorax_deformities_in_two_brothers:_a_new_recessive_syndrome L2 - https://doi.org/10.1097/00019605-200104000-00006 DB - PRIME DP - Unbound Medicine ER -