Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome?
Clin Dysmorphol
; 10(2): 105-9, 2001 Apr.
Article
en En
| MEDLINE
| ID: mdl-11310989
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.
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Banco de datos:
MEDLINE
Asunto principal:
Tórax
/
Disostosis Mandibulofacial
/
Microcefalia
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Humans
/
Infant
/
Male
Idioma:
En
Año:
2001
Tipo del documento:
Article